Orphanet classification: Rare genetic disease (ORPHA:98053)
Disorder type: Category
Subcategories and diseases:
Name: RASopathy
OrphaCode: 536391
DisorderType: Category
Children: Name: Mosaic Legius syndrome
OrphaCode: 634511
DisorderType: Disease
Name: Noonan syndrome and Noonan-related syndrome
OrphaCode: 98733
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Legius syndrome
OrphaCode: 137605
DisorderType: Malformation syndrome
Name: Capillary malformation-arteriovenous malformation
OrphaCode: 137667
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Biological anomaly without phenotypic characterization
OrphaCode: 447874
DisorderType: Category
Children: Name: Congenital deficiency in alpha-fetoprotein
OrphaCode: 168612
DisorderType: Biological anomaly
Name: Hereditary persistence of alpha-fetoprotein
OrphaCode: 168615
DisorderType: Biological anomaly
Name: Genetic hyperferritinemia without iron overload
OrphaCode: 254704
DisorderType: Biological anomaly
Name: Beta-mercaptolactate cysteine disulfiduria
OrphaCode: 1035
DisorderType: Biological anomaly
Name: Carnosinase deficiency
OrphaCode: 1361
DisorderType: Biological anomaly
Name: Imprinting disorders
OrphaCode: 641343
DisorderType: Clinical group
Children: Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Transient neonatal diabetes mellitus
OrphaCode: 99886
DisorderType: Disease
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome
OrphaCode: 254519
DisorderType: Malformation syndrome
Children: Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
OrphaCode: 254534
DisorderType: Etiological subtype
Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Rare chromosomal anomaly
OrphaCode: 68335
DisorderType: Category
Children: Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Polyploidy
OrphaCode: 96321
DisorderType: Category
Children: Name: Tetraploidy
OrphaCode: 3305
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Autosomal anomaly
OrphaCode: 98127
DisorderType: Category
Children: Name: Ring chromosome
OrphaCode: 363203
DisorderType: Category
Children: Name: Ring chromosome 3 syndrome
OrphaCode: 96172
DisorderType: Malformation syndrome
Name: Ring chromosome 9 syndrome
OrphaCode: 96173
DisorderType: Malformation syndrome
Name: Ring chromosome 11 syndrome
OrphaCode: 96175
DisorderType: Malformation syndrome
Name: Ring chromosome 13 syndrome
OrphaCode: 96176
DisorderType: Malformation syndrome
Name: Ring chromosome 15 syndrome
OrphaCode: 96177
DisorderType: Malformation syndrome
Name: Ring chromosome 16 syndrome
OrphaCode: 96178
DisorderType: Malformation syndrome
Name: Ring chromosome 5 syndrome
OrphaCode: 251043
DisorderType: Malformation syndrome
Name: Ring chromosome 18 syndrome
OrphaCode: 1442
DisorderType: Malformation syndrome
Name: Ring chromosome 22 syndrome
OrphaCode: 1446
DisorderType: Malformation syndrome
Name: Ring chromosome 1 syndrome
OrphaCode: 1437
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: Ring chromosome 12 syndrome
OrphaCode: 1439
DisorderType: Malformation syndrome
Name: Ring chromosome 20 syndrome
OrphaCode: 1444
DisorderType: Malformation syndrome
Name: Ring chromosome 4 syndrome
OrphaCode: 1447
DisorderType: Malformation syndrome
Name: Ring chromosome 6 syndrome
OrphaCode: 1448
DisorderType: Malformation syndrome
Name: Ring chromosome 8 syndrome
OrphaCode: 1450
DisorderType: Malformation syndrome
Name: Ring chromosome 21 syndrome
OrphaCode: 1445
DisorderType: Malformation syndrome
Name: Ring chromosome 14 syndrome
OrphaCode: 1440
DisorderType: Malformation syndrome
Name: Ring chromosome 19 syndrome
OrphaCode: 1443
DisorderType: Malformation syndrome
Name: Ring chromosome 7 syndrome
OrphaCode: 1449
DisorderType: Malformation syndrome
Name: Ring chromosome 17 syndrome
OrphaCode: 1441
DisorderType: Malformation syndrome
Name: Ring chromosome 2 syndrome
OrphaCode: 96171
DisorderType: Malformation syndrome
Name: Autosomal trisomy
OrphaCode: 98130
DisorderType: Category
Children: Name: Total autosomal trisomy
OrphaCode: 98131
DisorderType: Category
Children: Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Mosaic trisomy 14
OrphaCode: 1703
DisorderType: Malformation syndrome
Name: Mosaic trisomy 1
OrphaCode: 1692
DisorderType: Malformation syndrome
Name: Mosaic trisomy 12
OrphaCode: 1698
DisorderType: Malformation syndrome
Name: Mosaic trisomy 15
OrphaCode: 1706
DisorderType: Malformation syndrome
Name: Mosaic trisomy 16
OrphaCode: 1708
DisorderType: Malformation syndrome
Name: Mosaic trisomy 17
OrphaCode: 1711
DisorderType: Malformation syndrome
Name: Mosaic trisomy 2
OrphaCode: 1723
DisorderType: Malformation syndrome
Name: Mosaic trisomy 20
OrphaCode: 1724
DisorderType: Malformation syndrome
Name: Mosaic trisomy 7
OrphaCode: 1747
DisorderType: Malformation syndrome
Name: Mosaic trisomy 4
OrphaCode: 96059
DisorderType: Malformation syndrome
Name: Mosaic trisomy 5
OrphaCode: 96060
DisorderType: Malformation syndrome
Name: Mosaic trisomy 8
OrphaCode: 96061
DisorderType: Malformation syndrome
Name: Mosaic trisomy 10
OrphaCode: 96063
DisorderType: Malformation syndrome
Name: Mosaic trisomy 22
OrphaCode: 96068
DisorderType: Malformation syndrome
Name: Mosaic trisomy 9
OrphaCode: 99776
DisorderType: Malformation syndrome
Name: Mosaic trisomy 3
OrphaCode: 100071
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Partial autosomal duplication/triplication
OrphaCode: 98132
DisorderType: Category
Children: Name: Tetrasomy 21
OrphaCode: 96055
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 1
OrphaCode: 262191
DisorderType: Category
Children: Name: Partial duplication of the long arm of chromosome 1
OrphaCode: 262833
DisorderType: Category
Children: Name: 1q21.1 microduplication syndrome
OrphaCode: 250994
DisorderType: Malformation syndrome
Name: Trisomy 1q
OrphaCode: 261344
DisorderType: Malformation syndrome
Name: Partial duplication of the short arm of chromosome 1
OrphaCode: 264431
DisorderType: Category
Children: Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: Distal duplication 1p36
OrphaCode: 96069
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 2
OrphaCode: 262196
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 2
OrphaCode: 262698
DisorderType: Category
Children: Name: Distal duplication 2p
OrphaCode: 96070
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 2
OrphaCode: 262842
DisorderType: Category
Children: Name: Distal duplication 2q
OrphaCode: 96094
DisorderType: Malformation syndrome
Name: Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
OrphaCode: 294026
DisorderType: Malformation syndrome
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 3
OrphaCode: 262201
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 3
OrphaCode: 262707
DisorderType: Category
Children: Name: Distal duplication 3p
OrphaCode: 96071
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 3
OrphaCode: 262851
DisorderType: Category
Children: Name: 3q26 microduplication syndrome
OrphaCode: 96095
DisorderType: Malformation syndrome
Name: 3q29 microduplication syndrome
OrphaCode: 251038
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 4
OrphaCode: 262206
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 4
OrphaCode: 262716
DisorderType: Category
Children: Name: Trisomy 4p
OrphaCode: 1738
DisorderType: Malformation syndrome
Name: 4p16.3 microduplication syndrome
OrphaCode: 96072
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 4
OrphaCode: 262860
DisorderType: Category
Children: Name: Distal duplication 4q
OrphaCode: 96096
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 5
OrphaCode: 262211
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 5
OrphaCode: 262725
DisorderType: Category
Children: Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: Tetrasomy 5p
OrphaCode: 3309
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 5
OrphaCode: 262869
DisorderType: Category
Children: Name: Distal duplication 5q
OrphaCode: 96097
DisorderType: Malformation syndrome
Name: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: 5q35 microduplication syndrome
OrphaCode: 228415
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 6
OrphaCode: 262628
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 6
OrphaCode: 262740
DisorderType: Category
Children: Name: Distal duplication 6p
OrphaCode: 1745
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 6
OrphaCode: 262878
DisorderType: Category
Children: Name: Distal duplication 6q
OrphaCode: 96098
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 7
OrphaCode: 262633
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 7
OrphaCode: 262749
DisorderType: Category
Children: Name: Distal duplication 7p
OrphaCode: 96074
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 7
OrphaCode: 262887
DisorderType: Category
Children: Name: 7q11.23 microduplication syndrome
OrphaCode: 96121
DisorderType: Malformation syndrome
Name: Distal 7q11.23 microduplication syndrome
OrphaCode: 261102
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 8
OrphaCode: 262638
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 8
OrphaCode: 262758
DisorderType: Category
Children: Name: 8p23.1 duplication syndrome
OrphaCode: 251076
DisorderType: Malformation syndrome
Name: Trisomy 8p
OrphaCode: 264450
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 8
OrphaCode: 262896
DisorderType: Category
Children: Name: Trisomy 8q
OrphaCode: 1752
DisorderType: Malformation syndrome
Name: Distal duplication 8q
OrphaCode: 96100
DisorderType: Malformation syndrome
Name: 8q12 microduplication syndrome
OrphaCode: 228399
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 9
OrphaCode: 262643
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 9
OrphaCode: 262767
DisorderType: Category
Children: Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: Tetrasomy 9p
OrphaCode: 3310
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 9
OrphaCode: 262905
DisorderType: Category
Children: Name: Distal duplication 9q
OrphaCode: 96101
DisorderType: Malformation syndrome
Name: Non-distal duplication 9q
OrphaCode: 96112
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 10
OrphaCode: 262648
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 10
OrphaCode: 262776
DisorderType: Category
Children: Name: Trisomy 10p
OrphaCode: 171929
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 10
OrphaCode: 262914
DisorderType: Category
Children: Name: Non-distal duplication 10q
OrphaCode: 1695
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Distal duplication 10q
OrphaCode: 96102
DisorderType: Malformation syndrome
Name: 10q22.3q23.3 microduplication syndrome
OrphaCode: 276422
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 11
OrphaCode: 262653
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 11
OrphaCode: 262785
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 11
OrphaCode: 262923
DisorderType: Category
Children: Name: Distal duplication 11q
OrphaCode: 96103
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of the short arm of chromosome 12
OrphaCode: 262658
DisorderType: Category
Children: Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Trisomy 12p
OrphaCode: 1699
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 16
OrphaCode: 262672
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 16
OrphaCode: 262794
DisorderType: Category
Children: Name: 16p13.3 microduplication syndrome
OrphaCode: 96078
DisorderType: Malformation syndrome
Name: 16p11.2p12.2 microduplication syndrome
OrphaCode: 261204
DisorderType: Malformation syndrome
Name: 16p13.11 microduplication syndrome
OrphaCode: 261243
DisorderType: Malformation syndrome
Name: Proximal 16p11.2 microduplication syndrome
OrphaCode: 370079
DisorderType: Malformation syndrome
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 16
OrphaCode: 262959
DisorderType: Category
Children: Name: Distal duplication 16q
OrphaCode: 96106
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 17
OrphaCode: 262677
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 17
OrphaCode: 262803
DisorderType: Category
Children: Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease type 1A
OrphaCode: 101081
DisorderType: Disease
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Trisomy 17p
OrphaCode: 261290
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 17
OrphaCode: 262968
DisorderType: Category
Children: Name: Distal duplication 17q
OrphaCode: 3379
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: 17q12 microduplication syndrome
OrphaCode: 261272
DisorderType: Malformation syndrome
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 18
OrphaCode: 262682
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 18
OrphaCode: 262812
DisorderType: Category
Children: Name: Trisomy 18p
OrphaCode: 1715
DisorderType: Malformation syndrome
Name: Tetrasomy 18p
OrphaCode: 3307
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 18
OrphaCode: 262977
DisorderType: Category
Children: Name: Distal duplication 18q
OrphaCode: 1716
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 19
OrphaCode: 262687
DisorderType: Category
Children: Name: Partial duplication of the long arm of chromosome 19
OrphaCode: 262986
DisorderType: Category
Children: Name: Distal duplication 19q
OrphaCode: 1717
DisorderType: Malformation syndrome
Name: Partial duplication of the short arm of chromosome 19
OrphaCode: 447985
DisorderType: Category
Children: Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 20
OrphaCode: 262692
DisorderType: Category
Children: Name: Trisomy 20p
OrphaCode: 261318
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 20
OrphaCode: 262995
DisorderType: Category
Children: Name: Distal duplication 20q
OrphaCode: 96107
DisorderType: Malformation syndrome
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 13
OrphaCode: 262932
DisorderType: Category
Children: Name: Non-distal duplication 13q
OrphaCode: 1702
DisorderType: Malformation syndrome
Name: Distal duplication 13q
OrphaCode: 96105
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 14
OrphaCode: 262941
DisorderType: Category
Children: Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: 14q11.2 microduplication syndrome
OrphaCode: 261229
DisorderType: Malformation syndrome
Name: 14q32 duplication syndrome
OrphaCode: 488280
DisorderType: Disease
Name: Partial duplication of the long arm of chromosome 15
OrphaCode: 262950
DisorderType: Category
Children: Name: 15q11q13 microduplication syndrome
OrphaCode: 238446
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Partial duplication of the long arm of chromosome 22
OrphaCode: 263004
DisorderType: Category
Children: Name: 22q11.2 duplication syndrome
OrphaCode: 1727
DisorderType: Malformation syndrome
Name: Distal duplication 22q
OrphaCode: 96109
DisorderType: Malformation syndrome
Name: Distal 22q11.2 microduplication syndrome
OrphaCode: 261337
DisorderType: Malformation syndrome
Name: Autosomal uniparental disomy
OrphaCode: 98152
DisorderType: Category
Children: Name: Maternal uniparental disomy
OrphaCode: 98153
DisorderType: Category
Children: Name: Maternal uniparental disomy of chromosome 2
OrphaCode: 96179
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 4
OrphaCode: 96180
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 6
OrphaCode: 96181
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 9
OrphaCode: 96183
DisorderType: Malformation syndrome
Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 16
OrphaCode: 96185
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 20
OrphaCode: 96186
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 21
OrphaCode: 96187
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 22
OrphaCode: 96188
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 13
OrphaCode: 97678
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 1
OrphaCode: 251009
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy
OrphaCode: 98154
DisorderType: Category
Children: Name: Paternal uniparental disomy of chromosome 5
OrphaCode: 96190
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 6
OrphaCode: 96191
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 7
OrphaCode: 96192
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Paternal uniparental disomy of chromosome 20
OrphaCode: 96194
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 21
OrphaCode: 96195
DisorderType: Malformation syndrome
Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Paternal uniparental disomy of chromosome 13
OrphaCode: 99324
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 1
OrphaCode: 251004
DisorderType: Malformation syndrome
Name: Mosaic genome-wide paternal uniparental disomy
OrphaCode: 329813
DisorderType: Malformation syndrome
Name: Autosomal monosomy
OrphaCode: 102020
DisorderType: Category
Children: Name: Total autosomal monosomy
OrphaCode: 98141
DisorderType: Category
Children: Name: Monosomy 22
OrphaCode: 96123
DisorderType: Malformation syndrome
Name: Partial autosomal deletion
OrphaCode: 98142
DisorderType: Category
Children: Name: Partial deletion of chromosome 1
OrphaCode: 261766
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 1
OrphaCode: 261857
DisorderType: Category
Children: Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
OrphaCode: 615986
DisorderType: Etiological subtype
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 1
OrphaCode: 262001
DisorderType: Category
Children: Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: 1q44 microdeletion syndrome
OrphaCode: 238769
DisorderType: Malformation syndrome
Name: 1q21.1 microdeletion syndrome
OrphaCode: 250989
DisorderType: Malformation syndrome
Name: 1q41q42 microdeletion syndrome
OrphaCode: 250999
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 2
OrphaCode: 261771
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 2
OrphaCode: 261866
DisorderType: Category
Children: Name: 2p15p16.1 microdeletion syndrome
OrphaCode: 261349
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Homozygous 2p21 microdeletion syndrome
OrphaCode: 369886
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: 2p21 microdeletion syndrome without cystinuria
OrphaCode: 369881
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 2
OrphaCode: 262010
DisorderType: Category
Children: Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: 2q31.1 microdeletion syndrome
OrphaCode: 251014
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Partial deletion of chromosome 3
OrphaCode: 261776
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 3
OrphaCode: 261875
DisorderType: Category
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: 3p25.3 microdeletion syndrome
OrphaCode: 435638
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 3
OrphaCode: 262019
DisorderType: Category
Children: Name: 3q13 microdeletion syndrome
OrphaCode: 1621
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: 3q29 microdeletion syndrome
OrphaCode: 65286
DisorderType: Malformation syndrome
Name: 3q26q27 microdeletion syndrome
OrphaCode: 356947
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Partial deletion of chromosome 4
OrphaCode: 261781
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 4
OrphaCode: 261884
DisorderType: Category
Children: Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 4
OrphaCode: 262029
DisorderType: Category
Children: Name: Distal deletion 4q
OrphaCode: 96145
DisorderType: Malformation syndrome
Name: 4q21 microdeletion syndrome
OrphaCode: 238750
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 5
OrphaCode: 261786
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 5
OrphaCode: 261893
DisorderType: Category
Children: Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 5
OrphaCode: 262038
DisorderType: Category
Children: Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Deletion 5q35
OrphaCode: 1627
DisorderType: Malformation syndrome
Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 6
OrphaCode: 261791
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 6
OrphaCode: 261902
DisorderType: Category
Children: Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: 6p22 microdeletion syndrome
OrphaCode: 251046
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 6
OrphaCode: 262047
DisorderType: Category
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: 6q terminal deletion syndrome
OrphaCode: 75857
DisorderType: Malformation syndrome
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: 6q25.2q25.3 microdeletion syndrome
OrphaCode: 251056
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 7
OrphaCode: 261796
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 7
OrphaCode: 261911
DisorderType: Category
Children: Name: Distal deletion 7p
OrphaCode: 96126
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 7
OrphaCode: 262056
DisorderType: Category
Children: Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Distal monosomy 7q36
OrphaCode: 1636
DisorderType: Malformation syndrome
Name: 7q31 microdeletion syndrome
OrphaCode: 251061
DisorderType: Malformation syndrome
Name: Distal 7q11.23 microdeletion syndrome
OrphaCode: 254351
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 8
OrphaCode: 261801
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 8
OrphaCode: 261920
DisorderType: Category
Children: Name: 8p11.2 deletion syndrome
OrphaCode: 251066
DisorderType: Malformation syndrome
Name: 8p23.1 microdeletion syndrome
OrphaCode: 251071
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 8
OrphaCode: 262065
DisorderType: Category
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: 8q22.1 microdeletion syndrome
OrphaCode: 178303
DisorderType: Malformation syndrome
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 9
OrphaCode: 261806
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 9
OrphaCode: 261929
DisorderType: Category
Children: Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: Monosomy 9p
OrphaCode: 261112
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 9
OrphaCode: 262074
DisorderType: Category
Children: Name: Monosomy 9q22.3
OrphaCode: 77301
DisorderType: Malformation syndrome
Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: 9q21.13 microdeletion syndrome
OrphaCode: 531151
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 10
OrphaCode: 261811
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 10
OrphaCode: 261938
DisorderType: Category
Children: Name: Distal deletion 10p
OrphaCode: 1580
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Partial deletion of the long arm of chromosome 10
OrphaCode: 262083
DisorderType: Category
Children: Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Non-distal deletion 10q
OrphaCode: 1581
DisorderType: Malformation syndrome
Name: Distal deletion 10q
OrphaCode: 96148
DisorderType: Malformation syndrome
Name: 10q22.3q23.3 microdeletion syndrome
OrphaCode: 276413
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 11
OrphaCode: 261816
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 11
OrphaCode: 261947
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 11
OrphaCode: 262092
DisorderType: Category
Children: Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Otodental syndrome
OrphaCode: 2791
DisorderType: Malformation syndrome
Name: Paris-Trousseau thrombocytopenia
OrphaCode: 851
DisorderType: Disease
Name: Oculootodental syndrome
OrphaCode: 99806
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 16
OrphaCode: 261826
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 16
OrphaCode: 261956
DisorderType: Category
Children: Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: Proximal 16p11.2 microdeletion syndrome
OrphaCode: 261197
DisorderType: Malformation syndrome
Name: 16p11.2p12.2 microdeletion syndrome
OrphaCode: 261211
DisorderType: Malformation syndrome
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: 16p13.11 microdeletion syndrome
OrphaCode: 261236
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Hao-Fountain syndrome due to 16p13.2 microdeletion
OrphaCode: 500055
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 16
OrphaCode: 262128
DisorderType: Category
Children: Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: 16q24.3 microdeletion syndrome
OrphaCode: 261250
DisorderType: Malformation syndrome
Name: 16q24.1 microdeletion syndrome
OrphaCode: 352629
DisorderType: Disease
Name: Partial deletion of chromosome 17
OrphaCode: 261831
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 17
OrphaCode: 261965
DisorderType: Category
Children: Name: Hereditary neuropathy with liability to pressure palsies
OrphaCode: 640
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Distal 17p13.3 microdeletion syndrome
OrphaCode: 261257
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 17
OrphaCode: 262137
DisorderType: Category
Children: Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Distal deletion 17q
OrphaCode: 1597
DisorderType: Malformation syndrome
Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: 17q12 microdeletion syndrome
OrphaCode: 261265
DisorderType: Malformation syndrome
Name: 17q23.1q23.2 microdeletion syndrome
OrphaCode: 261279
DisorderType: Malformation syndrome
Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Partial deletion of chromosome 18
OrphaCode: 261836
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 18
OrphaCode: 261974
DisorderType: Category
Children: Name: Monosomy 18p
OrphaCode: 1598
DisorderType: Disease
Name: Partial deletion of the long arm of chromosome 18
OrphaCode: 262146
DisorderType: Category
Children: Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 19
OrphaCode: 261841
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 19
OrphaCode: 261983
DisorderType: Category
Children: Name: Distal deletion 19p
OrphaCode: 96129
DisorderType: Malformation syndrome
Name: 19p13.12 microdeletion syndrome
OrphaCode: 254346
DisorderType: Malformation syndrome
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 19
OrphaCode: 262155
DisorderType: Category
Children: Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 20
OrphaCode: 261846
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 20
OrphaCode: 261992
DisorderType: Category
Children: Name: 20p12.3 microdeletion syndrome
OrphaCode: 261295
DisorderType: Malformation syndrome
Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 20
OrphaCode: 262164
DisorderType: Category
Children: Name: Paternal 20q13.2q13.3 microdeletion syndrome
OrphaCode: 261304
DisorderType: Malformation syndrome
Name: 20q13.33 microdeletion syndrome
OrphaCode: 261311
DisorderType: Malformation syndrome
Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 13
OrphaCode: 262101
DisorderType: Category
Children: Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Monosomy 13q34
OrphaCode: 96168
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 14
OrphaCode: 262110
DisorderType: Category
Children: Name: Distal deletion 14q
OrphaCode: 96150
DisorderType: Malformation syndrome
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: 14q11.2 microdeletion syndrome
OrphaCode: 261120
DisorderType: Malformation syndrome
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: 14q22q23 microdeletion syndrome
OrphaCode: 264200
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 15
OrphaCode: 262119
DisorderType: Category
Children: Name: Distal deletion 15q
OrphaCode: 1596
DisorderType: Malformation syndrome
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: 15q11.2 microdeletion syndrome
OrphaCode: 261183
DisorderType: Malformation syndrome
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: Partial deletion of the long arm of chromosome 21
OrphaCode: 262173
DisorderType: Category
Children: Name: 21q deletion syndrome
OrphaCode: 574
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 22
OrphaCode: 262182
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Distal 22q11.2 microdeletion syndrome
OrphaCode: 261330
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 12
OrphaCode: 282124
DisorderType: Category
Children: Name: Partial deletion of the long arm of chromosome 12
OrphaCode: 261821
DisorderType: Category
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Distal deletion 12q
OrphaCode: 96149
DisorderType: Malformation syndrome
Name: Non-distal deletion 12q
OrphaCode: 96160
DisorderType: Malformation syndrome
Name: 12q15q21.1 microdeletion syndrome
OrphaCode: 289513
DisorderType: Malformation syndrome
Name: Partial deletion of the short arm of chromosome 12
OrphaCode: 316244
DisorderType: Category
Children: Name: Distal deletion 12p
OrphaCode: 280325
DisorderType: Malformation syndrome
Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: Complex chromosomal rearrangement
OrphaCode: 263708
DisorderType: Category
Children: Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: 8p inverted duplication/deletion syndrome
OrphaCode: 96092
DisorderType: Malformation syndrome
Name: Recombinant 8 syndrome
OrphaCode: 96167
DisorderType: Malformation syndrome
Name: Emanuel syndrome
OrphaCode: 96170
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Sex-chromosome anomaly
OrphaCode: 98155
DisorderType: Category
Children: Name: Sex-chromosome number anomaly
OrphaCode: 98156
DisorderType: Category
Children: Name: X chromosome number anomaly
OrphaCode: 263714
DisorderType: Category
Children: Name: X chromosome number anomaly with female phenotype
OrphaCode: 263717
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Polysomy of X chromosome
OrphaCode: 263723
DisorderType: Category
Children: Name: Pentasomy X
OrphaCode: 11
DisorderType: Malformation syndrome
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: X chromosome number anomaly with male phenotype
OrphaCode: 263720
DisorderType: Category
Children: Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Y chromosome number anomaly
OrphaCode: 263746
DisorderType: Category
Children: Name: 47,XYY syndrome
OrphaCode: 8
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 49,XYYYY syndrome
OrphaCode: 99330
DisorderType: Malformation syndrome
Name: X and Y chromosomal anomaly
OrphaCode: 263749
DisorderType: Category
Children: Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: 49,XXXYY syndrome
OrphaCode: 261534
DisorderType: Malformation syndrome
Name: Sex-chromosome structural anomaly
OrphaCode: 98157
DisorderType: Category
Children: Name: Chromosome Y structural anomaly
OrphaCode: 98158
DisorderType: Category
Children: Name: Chromosome Y microdeletion
OrphaCode: 1646
DisorderType: Malformation syndrome
Name: Isochromosome Y
OrphaCode: 96325
DisorderType: Category
Children: Name: Isochromosomy Yp
OrphaCode: 98797
DisorderType: Malformation syndrome
Name: Isochromosomy Yq
OrphaCode: 98798
DisorderType: Malformation syndrome
Name: Ring chromosome Y syndrome
OrphaCode: 261529
DisorderType: Malformation syndrome
Name: Chromosome X structural anomaly
OrphaCode: 98159
DisorderType: Category
Children: Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome X
OrphaCode: 263726
DisorderType: Category
Children: Name: Partial deletion of the short arm of the chromosome X
OrphaCode: 263731
DisorderType: Category
Children: Name: Xp22.3 microdeletion syndrome
OrphaCode: 1643
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: Xp21 deletion syndrome
OrphaCode: 261476
DisorderType: Disease
Name: Atypical Norrie disease due to Xp11.3 microdeletion
OrphaCode: 261501
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome X
OrphaCode: 263756
DisorderType: Category
Children: Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: Partial duplication of chromosome X
OrphaCode: 263768
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome X
OrphaCode: 263775
DisorderType: Category
Children: Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome X
OrphaCode: 263783
DisorderType: Category
Children: Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: Xq27.3q28 duplication syndrome
OrphaCode: 261483
DisorderType: Malformation syndrome
Name: Distal Xq28 microduplication syndrome
OrphaCode: 293939
DisorderType: Malformation syndrome
Name: Xq12-q13.3 duplication syndrome
OrphaCode: 314389
DisorderType: Malformation syndrome
Name: Uniparental disomy of chromosome X
OrphaCode: 263793
DisorderType: Category
Children: Name: Maternal uniparental disomy of chromosome X
OrphaCode: 261519
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome X
OrphaCode: 261524
DisorderType: Malformation syndrome
Name: Rare genetic tumor
OrphaCode: 68336
DisorderType: Category
Children: Name: Genetic skin tumor or hamartoma
OrphaCode: 183487
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Encephalocraniocutaneous lipomatosis
OrphaCode: 2396
DisorderType: Disease
Name: Syringocystadenoma papilliferum
OrphaCode: 840
DisorderType: Disease
Name: Rombo syndrome
OrphaCode: 3110
DisorderType: Disease
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Familial melanoma
OrphaCode: 618
DisorderType: Disease
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Familial keratoacanthoma
OrphaCode: 493
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Multiple self-healing squamous epithelioma
OrphaCode: 65748
DisorderType: Disease
Name: Brooke-Spiegler syndrome
OrphaCode: 79493
DisorderType: Disease
Children: Name: Familial cylindromatosis
OrphaCode: 211
DisorderType: Clinical subtype
Name: Familial multiple trichoepithelioma
OrphaCode: 867
DisorderType: Clinical subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Generalized basaloid follicular hamartoma syndrome
OrphaCode: 168632
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Rare genetic nevus
OrphaCode: 622914
DisorderType: Category
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Large congenital melanocytic nevus
OrphaCode: 626
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Nevus comedonicus syndrome
OrphaCode: 64754
DisorderType: Disease
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Porokeratotic eccrine ostial and dermal duct nevus
OrphaCode: 166286
DisorderType: Disease
Name: White sponge nevus
OrphaCode: 171723
DisorderType: Disease
Name: PENS syndrome
OrphaCode: 313936
DisorderType: Disease
Name: Familial multiple discoid fibromas
OrphaCode: 538756
DisorderType: Disease
Name: Genetic bone tumor
OrphaCode: 183527
DisorderType: Category
Children: Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Familial ossifying fibroma
OrphaCode: 435329
DisorderType: Disease
Name: Genetic renal tumor
OrphaCode: 183595
DisorderType: Category
Children: Name: Nephroblastoma
OrphaCode: 654
DisorderType: Disease
Name: Clear cell sarcoma of kidney
OrphaCode: 457246
DisorderType: Disease
Name: Genetic eye tumor
OrphaCode: 183619
DisorderType: Category
Children: Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Ring dermoid of cornea
OrphaCode: 91481
DisorderType: Disease
Name: Genetic gynecological tumor
OrphaCode: 183734
DisorderType: Category
Children: Name: Hereditary breast cancer
OrphaCode: 227535
DisorderType: Disease
Name: Genetic soft tissue tumor
OrphaCode: 271832
DisorderType: Category
Children: Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Genetic digestive tract tumor
OrphaCode: 271835
DisorderType: Category
Children: Name: Familial adenomatous polyposis
OrphaCode: 733
DisorderType: Disease
Children: Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Hereditary diffuse gastric cancer
OrphaCode: 26106
DisorderType: Disease
Name: Gastrointestinal stromal tumor
OrphaCode: 44890
DisorderType: Disease
Name: Attenuated familial adenomatous polyposis
OrphaCode: 220460
DisorderType: Disease
Children: Name: MUTYH-related attenuated familial adenomatous polyposis
OrphaCode: 247798
DisorderType: Clinical subtype
Name: APC-related attenuated familial adenomatous polyposis
OrphaCode: 247806
DisorderType: Clinical subtype
Name: AXIN2-related attenuated familial adenomatous polyposis
OrphaCode: 401911
DisorderType: Clinical subtype
Name: MSH3-related attenuated familial adenomatous polyposis
OrphaCode: 480536
DisorderType: Clinical subtype
Name: Polymerase proofreading-related adenomatous polyposis
OrphaCode: 447877
DisorderType: Clinical subtype
Name: NTHL1-related attenuated familial adenomatous polyposis
OrphaCode: 454840
DisorderType: Clinical subtype
Name: Hereditary nonpolyposis colon cancer
OrphaCode: 443909
DisorderType: Clinical group
Children: Name: Lynch syndrome
OrphaCode: 144
DisorderType: Disease
Name: Familial colorectal cancer Type X
OrphaCode: 440437
DisorderType: Disease
Name: Genetic cardiac tumor
OrphaCode: 271841
DisorderType: Category
Children: Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Familial atrial myxoma
OrphaCode: 615
DisorderType: Disease
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Genetic urogenital tumor
OrphaCode: 271844
DisorderType: Category
Children: Name: Familial prostate cancer
OrphaCode: 1331
DisorderType: Disease
Name: Genetic neuroendocrine tumor
OrphaCode: 271847
DisorderType: Category
Children: Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Hereditary pheochromocytoma-paraganglioma
OrphaCode: 29072
DisorderType: Disease
Name: Multiple polyglandular tumor
OrphaCode: 100094
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Carney-Stratakis syndrome
OrphaCode: 97286
DisorderType: Disease
Name: Carney triad
OrphaCode: 139411
DisorderType: Disease
Name: Multiple endocrine neoplasia
OrphaCode: 276161
DisorderType: Clinical group
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 4
OrphaCode: 276152
DisorderType: Disease
Name: Familial nonmedullary thyroid carcinoma
OrphaCode: 319494
DisorderType: Clinical group
Children: Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Familial papillary or follicular thyroid carcinoma
OrphaCode: 319487
DisorderType: Disease
Name: Multiple paragangliomas associated with polycythemia
OrphaCode: 324299
DisorderType: Disease
Name: Genetic tumor of hematopoietic and lymphoid tissues
OrphaCode: 322126
DisorderType: Category
Children: Name: Inherited acute myeloid leukemia
OrphaCode: 319465
DisorderType: Disease
Name: Acute myeloid leukemia with CEBPA somatic mutations
OrphaCode: 319480
DisorderType: Disease
Name: Rare genetic skin disease
OrphaCode: 68346
DisorderType: Category
Children: Name: Genetic autoinflammatory syndrome with skin involvement
OrphaCode: 622720
DisorderType: Category
Children: Name: F12-associated cold autoinflammatory syndrome
OrphaCode: 617919
DisorderType: Disease
Name: Tumor necrosis factor receptor 1 associated periodic syndrome
OrphaCode: 32960
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: NLRP3-associated autoinflammatory disease
OrphaCode: 208650
DisorderType: Clinical group
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Familial cold urticaria
OrphaCode: 47045
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: NLRP12-associated hereditary periodic fever syndrome
OrphaCode: 247868
DisorderType: Disease
Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: DITRA
OrphaCode: 404546
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Periodic fever-infantile enterocolitis-autoinflammatory syndrome
OrphaCode: 436166
DisorderType: Disease
Name: NLRC4-related familial cold autoinflammatory syndrome
OrphaCode: 576349
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: Sweet syndrome
OrphaCode: 3243
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
OrphaCode: 674762
DisorderType: Disease
Name: Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
OrphaCode: 652510
DisorderType: Clinical group
Children: Name: PAPASH syndrome
OrphaCode: 641380
DisorderType: Disease
Name: PAPA syndrome
OrphaCode: 69126
DisorderType: Disease
Name: PASH syndrome
OrphaCode: 289478
DisorderType: Disease
Name: Genetic skin tumor or hamartoma
OrphaCode: 183487
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Encephalocraniocutaneous lipomatosis
OrphaCode: 2396
DisorderType: Disease
Name: Syringocystadenoma papilliferum
OrphaCode: 840
DisorderType: Disease
Name: Rombo syndrome
OrphaCode: 3110
DisorderType: Disease
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Familial melanoma
OrphaCode: 618
DisorderType: Disease
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Familial keratoacanthoma
OrphaCode: 493
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Dermatofibrosarcoma protuberans
OrphaCode: 31112
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Multiple self-healing squamous epithelioma
OrphaCode: 65748
DisorderType: Disease
Name: Brooke-Spiegler syndrome
OrphaCode: 79493
DisorderType: Disease
Children: Name: Familial cylindromatosis
OrphaCode: 211
DisorderType: Clinical subtype
Name: Familial multiple trichoepithelioma
OrphaCode: 867
DisorderType: Clinical subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Generalized basaloid follicular hamartoma syndrome
OrphaCode: 168632
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Rare genetic nevus
OrphaCode: 622914
DisorderType: Category
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Large congenital melanocytic nevus
OrphaCode: 626
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Nevus comedonicus syndrome
OrphaCode: 64754
DisorderType: Disease
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Porokeratotic eccrine ostial and dermal duct nevus
OrphaCode: 166286
DisorderType: Disease
Name: White sponge nevus
OrphaCode: 171723
DisorderType: Disease
Name: PENS syndrome
OrphaCode: 313936
DisorderType: Disease
Name: Familial multiple discoid fibromas
OrphaCode: 538756
DisorderType: Disease
Name: Primary lymphedema
OrphaCode: 77240
DisorderType: Category
Children: Name: Primary lymphedema without systemic or visceral involvement
OrphaCode: 568041
DisorderType: Category
Children: Name: Congenital primary lymphedema without systemic or visceral involvement
OrphaCode: 2416
DisorderType: Clinical group
Children: Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Milroy disease
OrphaCode: 79452
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Congenital primary lymphedema of Gordon
OrphaCode: 569821
DisorderType: Disease
Name: Late-onset primary lymphedema without systemic or visceral involvement
OrphaCode: 289825
DisorderType: Clinical group
Children: Name: GJC2-related late-onset primary lymphedema
OrphaCode: 568051
DisorderType: Disease
Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: CELSR1-related late-onset primary lymphedema
OrphaCode: 569816
DisorderType: Disease
Name: Meige disease
OrphaCode: 90186
DisorderType: Disease
Name: Primary lymphedema with systemic or visceral involvement
OrphaCode: 568044
DisorderType: Category
Children: Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Lymphedema-atrial septal defects-facial changes syndrome
OrphaCode: 86915
DisorderType: Malformation syndrome
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
OrphaCode: 568062
DisorderType: Disease
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Disorder with multisystemic involvement and primary lymphedema
OrphaCode: 568047
DisorderType: Category
Children: Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: Unclassified genetic skin disorder
OrphaCode: 79385
DisorderType: Category
Children: Name: Congenital lethal erythroderma
OrphaCode: 1954
DisorderType: Disease
Name: Multiple benign circumferential skin creases on limbs
OrphaCode: 2505
DisorderType: Disease
Name: Parana hard skin syndrome
OrphaCode: 2812
DisorderType: Disease
Name: Stiff skin syndrome
OrphaCode: 2833
DisorderType: Disease
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Erythema palmare hereditarium
OrphaCode: 231031
DisorderType: Disease
Name: Metabolic disease with skin involvement
OrphaCode: 79387
DisorderType: Category
Children: Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Alkaptonuria
OrphaCode: 56
DisorderType: Disease
Name: Multiple carboxylase deficiency
OrphaCode: 148
DisorderType: Clinical group
Children: Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Holocarboxylase synthetase deficiency
OrphaCode: 79242
DisorderType: Disease
Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Mucopolysaccharidosis with skin involvement
OrphaCode: 79388
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Congenital disorder of glycosylation with skin involvement
OrphaCode: 371200
DisorderType: Category
Children: Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Dowling-Degos disease
OrphaCode: 79145
DisorderType: Disease
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Premature aging
OrphaCode: 79389
DisorderType: Category
Children: Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Acrogeria
OrphaCode: 2500
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Progeroid syndrome, Petty type
OrphaCode: 2963
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: LMNA-related cardiocutaneous progeria syndrome
OrphaCode: 363618
DisorderType: Disease
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Acroosteolysis-keloid-like lesions-premature aging syndrome
OrphaCode: 363665
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Genetic epidermal disorder
OrphaCode: 183426
DisorderType: Category
Children: Name: Hailey-Hailey disease
OrphaCode: 2841
DisorderType: Disease
Name: Hereditary palmoplantar keratoderma
OrphaCode: 79357
DisorderType: Category
Children: Name: Diffuse palmoplantar keratoderma
OrphaCode: 307141
DisorderType: Category
Children: Name: Isolated diffuse palmoplantar keratoderma
OrphaCode: 307148
DisorderType: Clinical group
Children: Name: Autosomal dominant isolated diffuse palmoplantar keratoderma
OrphaCode: 98349
DisorderType: Category
Children: Name: Transgrediens et progrediens palmoplantar keratoderma
OrphaCode: 495
DisorderType: Disease
Name: Epidermolytic palmoplantar keratoderma
OrphaCode: 2199
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma, Bothnian type
OrphaCode: 2337
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma with painful fissures
OrphaCode: 369999
DisorderType: Disease
Name: KRT1-related diffuse nonepidermolytic keratoderma
OrphaCode: 530838
DisorderType: Disease
Name: Autosomal recessive isolated diffuse palmoplantar keratoderma
OrphaCode: 98356
DisorderType: Category
Children: Name: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
OrphaCode: 86923
DisorderType: Disease
Name: Mal de Meleda
OrphaCode: 87503
DisorderType: Disease
Name: Palmoplantar keratoderma, Nagashima type
OrphaCode: 140966
DisorderType: Disease
Name: Disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 307711
DisorderType: Category
Children: Name: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 98352
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Palmoplantar keratoderma-deafness syndrome
OrphaCode: 2202
DisorderType: Disease
Name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
OrphaCode: 2698
DisorderType: Disease
Name: Progressive symmetric erythrokeratodermia
OrphaCode: 316
DisorderType: Disease
Name: Huriez syndrome
OrphaCode: 384
DisorderType: Disease
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Diffuse palmoplantar keratoderma-acrocyanosis syndrome
OrphaCode: 86918
DisorderType: Disease
Name: Keratosis palmaris et plantaris-clinodactyly syndrome
OrphaCode: 86919
DisorderType: Disease
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Autosomal dominant diffuse mutilating palmoplantar keratoderma
OrphaCode: 307773
DisorderType: Clinical group
Children: Name: Keratoderma hereditarium mutilans
OrphaCode: 494
DisorderType: Disease
Name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
OrphaCode: 659
DisorderType: Disease
Name: Keratoderma hereditarium mutilans with ichthyosis
OrphaCode: 79395
DisorderType: Disease
Name: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
OrphaCode: 281201
DisorderType: Disease
Name: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
OrphaCode: 352662
DisorderType: Disease
Name: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
OrphaCode: 538574
DisorderType: Disease
Name: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
OrphaCode: 307804
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphaCode: 363523
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: Focal palmoplantar keratoderma
OrphaCode: 307837
DisorderType: Category
Children: Name: Isolated focal palmoplantar keratoderma
OrphaCode: 307846
DisorderType: Clinical group
Children: Name: Striate palmoplantar keratoderma
OrphaCode: 50942
DisorderType: Disease
Name: Hereditary painful callosities
OrphaCode: 79141
DisorderType: Disease
Name: Focal palmoplantar keratoderma with joint keratoses
OrphaCode: 370002
DisorderType: Disease
Name: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
OrphaCode: 402003
DisorderType: Disease
Name: Isolated focal non-epidermolytic palmoplantar keratoderma
OrphaCode: 448264
DisorderType: Disease
Name: Disease with focal palmoplantar keratoderma as a major feature
OrphaCode: 307871
DisorderType: Category
Children: Name: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
OrphaCode: 98353
DisorderType: Category
Children: Name: Palmoplantar keratoderma-esophageal carcinoma syndrome
OrphaCode: 2198
DisorderType: Disease
Name: Focal palmoplantar and gingival keratoderma
OrphaCode: 2200
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
OrphaCode: 98357
DisorderType: Category
Children: Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 420686
DisorderType: Disease
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: Punctate palmoplantar keratoderma
OrphaCode: 307967
DisorderType: Category
Children: Name: Isolated punctate palmoplantar keratoderma
OrphaCode: 2338
DisorderType: Clinical group
Children: Name: Porokeratosis plantaris palmaris et disseminata
OrphaCode: 737
DisorderType: Disease
Name: Punctate palmoplantar keratoderma type 1
OrphaCode: 79501
DisorderType: Disease
Name: Punctate palmoplantar keratoderma type 2
OrphaCode: 79502
DisorderType: Disease
Name: Marginal papular palmoplantar keratoderma
OrphaCode: 307995
DisorderType: Clinical group
Children: Name: Acrokeratoelastoidosis of Costa
OrphaCode: 38
DisorderType: Disease
Name: Focal acral hyperkeratosis
OrphaCode: 308013
DisorderType: Disease
Name: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
OrphaCode: 444138
DisorderType: Disease
Name: Disease with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308023
DisorderType: Category
Children: Name: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308031
DisorderType: Category
Children: Name: Hyperkeratosis-hyperpigmentation syndrome
OrphaCode: 1336
DisorderType: Disease
Name: Palmoplantar keratoderma-spastic paralysis syndrome
OrphaCode: 2201
DisorderType: Disease
Name: Hypopigmentation-punctate palmoplantar keratoderma syndrome
OrphaCode: 324561
DisorderType: Disease
Name: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
OrphaCode: 308041
DisorderType: Category
Children: Name: Leukoencephalopathy-palmoplantar keratoderma syndrome
OrphaCode: 2386
DisorderType: Disease
Name: Other genetic epidermal disease
OrphaCode: 79360
DisorderType: Category
Children: Name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
OrphaCode: 482606
DisorderType: Malformation syndrome
Name: Lethal acantholytic erosive disorder
OrphaCode: 158687
DisorderType: Disease
Name: Darier disease
OrphaCode: 218
DisorderType: Disease
Name: Absence of fingerprints-congenital milia syndrome
OrphaCode: 1658
DisorderType: Disease
Name: Hereditary bullous dystrophy, macular type
OrphaCode: 1867
DisorderType: Disease
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: Hyperkeratosis lenticularis perstans
OrphaCode: 409
DisorderType: Disease
Name: Keratosis pilaris atrophicans
OrphaCode: 498
DisorderType: Clinical group
Children: Name: Keratosis follicularis spinulosa decalvans
OrphaCode: 2340
DisorderType: Disease
Name: Ulerythema ophryogenesis
OrphaCode: 3406
DisorderType: Disease
Name: Atrophoderma vermiculata
OrphaCode: 79100
DisorderType: Disease
Name: Keratolytic winter erythema
OrphaCode: 50943
DisorderType: Disease
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
OrphaCode: 90301
DisorderType: Disease
Name: Generalized pustular psoriasis
OrphaCode: 247353
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Severe dermatitis-multiple allergies-metabolic wasting syndrome
OrphaCode: 369992
DisorderType: Disease
Name: Pustulosis palmaris et plantaris
OrphaCode: 163927
DisorderType: Disease
Name: Acrodermatitis continua of Hallopeau
OrphaCode: 163931
DisorderType: Disease
Name: Inherited epidermolysis bullosa
OrphaCode: 79361
DisorderType: Category
Children: Name: Dystrophic epidermolysis bullosa
OrphaCode: 303
DisorderType: Clinical group
Children: Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Recessive dystrophic epidermolysis bullosa inversa
OrphaCode: 79409
DisorderType: Disease
Name: Localized dystrophic epidermolysis bullosa
OrphaCode: 595356
DisorderType: Disease
Children: Name: Localized dystrophic epidermolysis bullosa, pretibial form
OrphaCode: 79410
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, acral form
OrphaCode: 158673
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, nails only
OrphaCode: 158676
DisorderType: Clinical subtype
Name: Self-improving dystrophic epidermolysis bullosa
OrphaCode: 79411
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa pruriginosa
OrphaCode: 89843
DisorderType: Disease
Name: Autosomal dominant generalized dystrophic epidermolysis bullosa
OrphaCode: 231568
DisorderType: Disease
Name: Epidermolysis bullosa simplex
OrphaCode: 304
DisorderType: Clinical group
Children: Name: Epidermolysis bullosa simplex without extracutaneous involvement
OrphaCode: 595346
DisorderType: Category
Children: Name: Epidermolysis bullosa simplex due to BP230 deficiency
OrphaCode: 412181
DisorderType: Disease
Name: Epidermolysis bullosa simplex due to exophilin 5 deficiency
OrphaCode: 412189
DisorderType: Disease
Name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
OrphaCode: 79396
DisorderType: Disease
Name: Epidermolysis bullosa simplex with mottled pigmentation
OrphaCode: 79397
DisorderType: Disease
Name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
OrphaCode: 79399
DisorderType: Disease
Name: Localized epidermolysis bullosa simplex
OrphaCode: 79400
DisorderType: Disease
Name: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
OrphaCode: 79401
DisorderType: Disease
Name: Autosomal recessive generalized epidermolysis bullosa simplex
OrphaCode: 89838
DisorderType: Disease
Name: Epidermolysis bullosa simplex with circinate migratory erythema
OrphaCode: 158681
DisorderType: Disease
Name: Epidermolysis bullosa simplex with extracutaneous involvement
OrphaCode: 595351
DisorderType: Category
Children: Name: Intermediate epidermolysis bullosa simplex with cardiomyopathy
OrphaCode: 508529
DisorderType: Disease
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Epidermolysis bullosa simplex with pyloric atresia
OrphaCode: 158684
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Kindler epidermolysis bullosa
OrphaCode: 2908
DisorderType: Disease
Name: Junctional epidermolysis bullosa
OrphaCode: 305
DisorderType: Clinical group
Children: Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Junctional epidermolysis bullosa with pyloric atresia
OrphaCode: 79403
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Junctional epidermolysis bullosa inversa
OrphaCode: 79405
DisorderType: Disease
Name: Late-onset junctional epidermolysis bullosa
OrphaCode: 79406
DisorderType: Disease
Name: Localized junctional epidermolysis bullosa
OrphaCode: 251393
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Intermediate generalized junctional epidermolysis bullosa
OrphaCode: 79402
DisorderType: Disease
Name: Seborrhea-like dermatitis with psoriasiform elements
OrphaCode: 168606
DisorderType: Disease
Name: Inherited ichthyosis
OrphaCode: 183435
DisorderType: Category
Children: Name: Inherited non-syndromic ichthyosis
OrphaCode: 281082
DisorderType: Category
Children: Name: Recessive X-linked ichthyosis
OrphaCode: 461
DisorderType: Disease
Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Peeling skin syndrome
OrphaCode: 817
DisorderType: Clinical group
Children: Name: Acral peeling skin syndrome
OrphaCode: 263534
DisorderType: Disease
Name: Generalized peeling skin syndrome
OrphaCode: 263543
DisorderType: Disease
Children: Name: Peeling skin syndrome type B
OrphaCode: 263553
DisorderType: Clinical subtype
Name: Peeling skin syndrome type A
OrphaCode: 263548
DisorderType: Clinical subtype
Name: Keratoderma hereditarium mutilans with ichthyosis
OrphaCode: 79395
DisorderType: Disease
Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Keratinopathic ichthyosis
OrphaCode: 281103
DisorderType: Clinical group
Children: Name: Congenital reticular ichthyosiform erythroderma
OrphaCode: 281190
DisorderType: Disease
Name: Autosomal dominant epidermolytic ichthyosis
OrphaCode: 312
DisorderType: Disease
Name: Superficial epidermolytic ichthyosis
OrphaCode: 455
DisorderType: Disease
Name: Ichthyosis hystrix of Curth-Macklin
OrphaCode: 79503
DisorderType: Disease
Name: Annular epidermolytic ichthyosis
OrphaCode: 281139
DisorderType: Disease
Name: Autosomal recessive epidermolytic ichthyosis
OrphaCode: 512103
DisorderType: Disease
Name: Epidermolytic nevus
OrphaCode: 497737
DisorderType: Disease
Name: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
OrphaCode: 281201
DisorderType: Disease
Name: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
OrphaCode: 444138
DisorderType: Disease
Name: Inherited ichthyosis syndromic form
OrphaCode: 281085
DisorderType: Category
Children: Name: X-linked ichthyosis syndrome
OrphaCode: 281210
DisorderType: Clinical group
Children: Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Syndromic recessive X-linked ichthyosis
OrphaCode: 281090
DisorderType: Disease
Name: Autosomal ichthyosis syndrome
OrphaCode: 281217
DisorderType: Category
Children: Name: Autosomal ichthyosis syndrome with prominent hair abnormalities
OrphaCode: 281222
DisorderType: Category
Children: Name: Netherton syndrome
OrphaCode: 634
DisorderType: Disease
Name: Neonatal ichthyosis-sclerosing cholangitis syndrome
OrphaCode: 59303
DisorderType: Disease
Name: Ichthyosis-hypotrichosis syndrome
OrphaCode: 91132
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Autosomal ichthyosis syndrome with prominent neurologic signs
OrphaCode: 281238
DisorderType: Category
Children: Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Congenital ichthyosis-microcephalus-tetraplegia syndrome
OrphaCode: 2271
DisorderType: Disease
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: Autosomal ichthyosis syndrome with fatal disease course
OrphaCode: 281241
DisorderType: Category
Children: Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: Fetal Gaucher disease
OrphaCode: 85212
DisorderType: Clinical subtype
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Autosomal ichthyosis syndrome with other associated signs
OrphaCode: 281244
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
OrphaCode: 3151
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
OrphaCode: 2274
DisorderType: Disease
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Ichthyosis-prematurity syndrome
OrphaCode: 88621
DisorderType: Disease
Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Genetic erythrokeratoderma
OrphaCode: 183438
DisorderType: Category
Children: Name: Pityriasis rubra pilaris
OrphaCode: 2897
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Erythrokeratoderma ''en cocardes''
OrphaCode: 315
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: Erythrokeratoderma variabilis progressiva
OrphaCode: 308166
DisorderType: Clinical group
Children: Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Progressive symmetric erythrokeratodermia
OrphaCode: 316
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: Genetic acrokeratoderma
OrphaCode: 183441
DisorderType: Category
Children: Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Acrokeratoelastoidosis of Costa
OrphaCode: 38
DisorderType: Disease
Name: Acrokeratosis verruciformis of Hopf
OrphaCode: 79151
DisorderType: Disease
Name: Punctate acrokeratoderma freckle-like pigmentation
OrphaCode: 99710
DisorderType: Disease
Name: Genetic porokeratosis
OrphaCode: 183444
DisorderType: Category
Children: Name: Porokeratosis of Mibelli
OrphaCode: 735
DisorderType: Disease
Name: Porokeratosis plantaris palmaris et disseminata
OrphaCode: 737
DisorderType: Disease
Name: Disseminated superficial actinic porokeratosis
OrphaCode: 79152
DisorderType: Disease
Name: Hereditary poikiloderma
OrphaCode: 222628
DisorderType: Category
Children: Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Hereditary sclerosing poikiloderma, Weary type
OrphaCode: 221039
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Poikiloderma with neutropenia
OrphaCode: 221046
DisorderType: Disease
Name: Hereditary acrokeratotic poikiloderma
OrphaCode: 2907
DisorderType: Disease
Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Genetic epidermal appendage anomaly
OrphaCode: 183447
DisorderType: Category
Children: Name: Ectodermal dysplasia syndrome
OrphaCode: 79373
DisorderType: Category
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Amelo-onycho-hypohidrotic syndrome
OrphaCode: 1028
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-ectodermal dysplasia syndrome
OrphaCode: 1174
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Böök syndrome
OrphaCode: 1262
DisorderType: Malformation syndrome
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: Dermatoosteolysis, Kirghizian type
OrphaCode: 1657
DisorderType: Malformation syndrome
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Christianson-Fourie type
OrphaCode: 1808
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pili torti-onychodysplasia syndrome
OrphaCode: 2890
DisorderType: Malformation syndrome
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Conductive deafness-ptosis-skeletal anomalies syndrome
OrphaCode: 3236
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Oculoectodermal syndrome
OrphaCode: 3339
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Pure hair and nail ectodermal dysplasia
OrphaCode: 69084
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fried's tooth and nail syndrome
OrphaCode: 99672
DisorderType: Malformation syndrome
Name: Dermotrichic syndrome
OrphaCode: 99688
DisorderType: Malformation syndrome
Name: Lelis syndrome
OrphaCode: 140936
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-skin fragility syndrome
OrphaCode: 158668
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
OrphaCode: 247820
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
OrphaCode: 247827
DisorderType: Malformation syndrome
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Focal facial dermal dysplasia
OrphaCode: 398166
DisorderType: Malformation syndrome
Children: Name: Focal facial dermal dysplasia type III
OrphaCode: 1807
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type I
OrphaCode: 79133
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type II
OrphaCode: 398173
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type IV
OrphaCode: 398189
DisorderType: Clinical subtype
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Genetic hair anomaly
OrphaCode: 183450
DisorderType: Category
Children: Name: Genetic alopecia
OrphaCode: 481771
DisorderType: Category
Children: Name: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
OrphaCode: 1008
DisorderType: Disease
Name: Alopecia universalis
OrphaCode: 701
DisorderType: Disease
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Alopecia-intellectual disability syndrome
OrphaCode: 2850
DisorderType: Disease
Name: Loose anagen syndrome
OrphaCode: 168
DisorderType: Disease
Name: Marie Unna hereditary hypotrichosis
OrphaCode: 444
DisorderType: Disease
Name: Hypotrichosis simplex
OrphaCode: 55654
DisorderType: Disease
Name: Atrichia with papular lesions
OrphaCode: 86819
DisorderType: Disease
Name: Hypotrichosis simplex of the scalp
OrphaCode: 90368
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hereditary hypotrichosis with recurrent skin vesicles
OrphaCode: 217407
DisorderType: Disease
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Ichthyosis-hypotrichosis syndrome
OrphaCode: 91132
DisorderType: Disease
Name: Rare disorder with hypertrichosis
OrphaCode: 79365
DisorderType: Category
Children: Name: Amaurosis-hypertrichosis syndrome
OrphaCode: 1021
DisorderType: Disease
Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Rabson-Mendenhall syndrome
OrphaCode: 769
DisorderType: Malformation syndrome
Name: Isolated anterior cervical hypertrichosis
OrphaCode: 3387
DisorderType: Disease
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Isolated hair shaft abnormality
OrphaCode: 79366
DisorderType: Category
Children: Name: Uncombable hair syndrome
OrphaCode: 1410
DisorderType: Disease
Name: Pili torti
OrphaCode: 2889
DisorderType: Disease
Name: Ringed hair disease
OrphaCode: 169
DisorderType: Disease
Name: Woolly hair
OrphaCode: 170
DisorderType: Disease
Name: Monilethrix
OrphaCode: 573
DisorderType: Disease
Name: Pili bifurcati
OrphaCode: 720
DisorderType: Disease
Name: Woolly hair nevus
OrphaCode: 79414
DisorderType: Disease
Name: Pili gemini
OrphaCode: 79492
DisorderType: Disease
Name: Syndromic hair shaft abnormality
OrphaCode: 79367
DisorderType: Category
Children: Name: Björnstad syndrome
OrphaCode: 123
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Pili torti-developmental delay-neurological abnormalities syndrome
OrphaCode: 2891
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodysplasia-xeroderma syndrome
OrphaCode: 3361
DisorderType: Malformation syndrome
Name: Crandall syndrome
OrphaCode: 202
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Syndrome with woolly hair
OrphaCode: 434809
DisorderType: Category
Children: Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 420686
DisorderType: Disease
Name: Familial isolated trichomegaly
OrphaCode: 411788
DisorderType: Disease
Name: Genetic nail anomaly
OrphaCode: 183454
DisorderType: Category
Children: Name: Isolated nail anomaly
OrphaCode: 79369
DisorderType: Category
Children: Name: Leukonychia totalis
OrphaCode: 2387
DisorderType: Disease
Name: Isolated congenital anonychia
OrphaCode: 79143
DisorderType: Disease
Children: Name: Anonychia-onychodystrophy syndrome
OrphaCode: 90390
DisorderType: Clinical subtype
Name: Anonychia congenita totalis
OrphaCode: 94150
DisorderType: Clinical subtype
Name: Idiopathic trachyonychia
OrphaCode: 79153
DisorderType: Disease
Name: Isolated nail clubbing
OrphaCode: 217059
DisorderType: Morphological anomaly
Name: Autosomal recessive nail dysplasia
OrphaCode: 280654
DisorderType: Disease
Name: Syndromic nail anomaly
OrphaCode: 79370
DisorderType: Category
Children: Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Odontomicronychial dysplasia
OrphaCode: 1811
DisorderType: Malformation syndrome
Name: FLOTCH syndrome
OrphaCode: 2045
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
OrphaCode: 210133
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Pectus excavatum-macrocephaly-dysplastic nails syndrome
OrphaCode: 2835
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Genetic sebaceous gland anomaly
OrphaCode: 183460
DisorderType: Category
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Steatocystoma multiplex-natal teeth syndrome
OrphaCode: 3184
DisorderType: Malformation syndrome
Name: Sebocystomatosis
OrphaCode: 841
DisorderType: Disease
Name: Isolated hyperchlorhidrosis
OrphaCode: 542657
DisorderType: Disease
Name: Genetic pigmentation anomaly of the skin
OrphaCode: 183463
DisorderType: Category
Children: Name: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
OrphaCode: 2435
DisorderType: Disease
Name: Genetic hyperpigmentation of the skin
OrphaCode: 183466
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Hyperkeratosis-hyperpigmentation syndrome
OrphaCode: 1336
DisorderType: Disease
Name: Gastrocutaneous syndrome
OrphaCode: 2069
DisorderType: Disease
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Familial isolated café-au-lait macules
OrphaCode: 2678
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: Dyschromatosis symmetrica hereditaria
OrphaCode: 41
DisorderType: Disease
Name: Dyschromatosis universalis hereditaria
OrphaCode: 241
DisorderType: Disease
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Dowling-Degos disease
OrphaCode: 79145
DisorderType: Disease
Name: Familial progressive hyperpigmentation
OrphaCode: 79146
DisorderType: Disease
Name: Linear and whorled nevoid hypermelanosis
OrphaCode: 79150
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Legius syndrome
OrphaCode: 137605
DisorderType: Malformation syndrome
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Reticulate acropigmentation of Kitamura
OrphaCode: 178307
DisorderType: Disease
Name: Familial generalized lentiginosis
OrphaCode: 231040
DisorderType: Disease
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
OrphaCode: 508512
DisorderType: Disease
Name: Mosaic Legius syndrome
OrphaCode: 634511
DisorderType: Disease
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Genetic hypopigmentation of the skin
OrphaCode: 183469
DisorderType: Category
Children: Name: Albinism-deafness syndrome
OrphaCode: 998
DisorderType: Malformation syndrome
Name: Oculocutaneous albinism
OrphaCode: 55
DisorderType: Clinical group
Children: Name: Oculocutaneous albinism type 2
OrphaCode: 79432
DisorderType: Disease
Name: Oculocutaneous albinism type 3
OrphaCode: 79433
DisorderType: Disease
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Oculocutaneous albinism type 1
OrphaCode: 352731
DisorderType: Disease
Children: Name: Oculocutaneous albinism type 1A
OrphaCode: 79431
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Minimal pigment oculocutaneous albinism type 1
OrphaCode: 352734
DisorderType: Clinical subtype
Name: Temperature-sensitive oculocutaneous albinism type 1
OrphaCode: 352737
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 7
OrphaCode: 352745
DisorderType: Disease
Name: Oculocutaneous albinism type 5
OrphaCode: 370091
DisorderType: Disease
Name: Oculocutaneous albinism type 6
OrphaCode: 370097
DisorderType: Disease
Name: Oculocutaneous albinism type 8
OrphaCode: 597733
DisorderType: Disease
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Piebaldism
OrphaCode: 2884
DisorderType: Disease
Name: Piebald trait-neurologic defects syndrome
OrphaCode: 2885
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Tietz syndrome
OrphaCode: 42665
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Syndromic oculocutaneous albinism
OrphaCode: 284811
DisorderType: Category
Children: Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome
OrphaCode: 381
DisorderType: Disease
Children: Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Griscelli syndrome type 3
OrphaCode: 79478
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Familial progressive hyper- and hypopigmentation
OrphaCode: 280628
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Genetic dermis disorder
OrphaCode: 183472
DisorderType: Category
Children: Name: Genetic skin vascular disorder
OrphaCode: 183478
DisorderType: Category
Children: Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: Atrophic papulosis
OrphaCode: 656071
DisorderType: Disease
Children: Name: Benign atrophic papulosis
OrphaCode: 656085
DisorderType: Clinical subtype
Name: Malignant atrophic papulosis
OrphaCode: 679
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Familial multiple nevi flammei
OrphaCode: 624
DisorderType: Morphological anomaly
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Chilblain lupus
OrphaCode: 90280
DisorderType: Disease
Name: Angioma serpiginosum
OrphaCode: 95429
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
OrphaCode: 313846
DisorderType: Disease
Name: Genetic mixed dermis disorder
OrphaCode: 183481
DisorderType: Category
Children: Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita
OrphaCode: 1114
DisorderType: Malformation syndrome
Name: Genetic dermis elastic tissue disorder
OrphaCode: 228215
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Familial cutaneous collagenoma
OrphaCode: 53296
DisorderType: Disease
Name: Familial reactive perforating collagenosis
OrphaCode: 79147
DisorderType: Disease
Name: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
OrphaCode: 91135
DisorderType: Disease
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Familial anetoderma
OrphaCode: 228277
DisorderType: Disease
Name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
OrphaCode: 436274
DisorderType: Disease
Name: Dermatoleukodystrophy
OrphaCode: 1659
DisorderType: Disease
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Other genetic dermis disorder
OrphaCode: 477808
DisorderType: Category
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: Antecubital pterygium syndrome
OrphaCode: 2987
DisorderType: Malformation syndrome
Name: Lipoid proteinosis
OrphaCode: 530
DisorderType: Malformation syndrome
Name: Dermochondrocorneal dystrophy
OrphaCode: 79149
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Linear atrophoderma of Moulin
OrphaCode: 140933
DisorderType: Disease
Name: Familial primary localized cutaneous amyloidosis
OrphaCode: 353220
DisorderType: Disease
Name: Primary non-essential cutis verticis gyrata
OrphaCode: 357225
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Isolated generalized anhidrosis with normal sweat glands
OrphaCode: 468666
DisorderType: Disease
Name: Genetic subcutaneous tissue disorder
OrphaCode: 183484
DisorderType: Category
Children: Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Multiple symmetric lipomatosis
OrphaCode: 2398
DisorderType: Disease
Name: Encephalocraniocutaneous lipomatosis
OrphaCode: 2396
DisorderType: Disease
Name: Roch-Leri mesosomatous lipomatosis
OrphaCode: 529
DisorderType: Disease
Name: Genetic lipodystrophy
OrphaCode: 98305
DisorderType: Category
Children: Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Lipodystrophy due to peptidic growth factors deficiency
OrphaCode: 1979
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Familial partial lipodystrophy
OrphaCode: 98306
DisorderType: Clinical group
Children: Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: PPARG-related familial partial lipodystrophy
OrphaCode: 79083
DisorderType: Disease
Name: Familial partial lipodystrophy, Köbberling type
OrphaCode: 79084
DisorderType: Disease
Name: AKT2-related familial partial lipodystrophy
OrphaCode: 79085
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: CIDEC-related familial partial lipodystrophy
OrphaCode: 435651
DisorderType: Disease
Name: LIPE-related familial partial lipodystrophy
OrphaCode: 435660
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Familial multiple lipomatosis
OrphaCode: 199276
DisorderType: Disease
Name: Familial angiolipomatosis
OrphaCode: 199279
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Isolated generalized anhidrosis with normal sweat glands
OrphaCode: 468666
DisorderType: Disease
Name: Genetic photodermatosis
OrphaCode: 183490
DisorderType: Category
Children: Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: UV-sensitive syndrome
OrphaCode: 178338
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Kindler epidermolysis bullosa
OrphaCode: 2908
DisorderType: Disease
Name: Genetic immune deficiency with skin involvement
OrphaCode: 183494
DisorderType: Category
Children: Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Chronic mucocutaneous candidiasis
OrphaCode: 1334
DisorderType: Disease
Name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
OrphaCode: 2314
DisorderType: Disease
Name: Hereditary mucoepithelial dysplasia
OrphaCode: 1839
DisorderType: Malformation syndrome
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: Erythroderma desquamativum
OrphaCode: 314
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with granulomatosis
OrphaCode: 157949
DisorderType: Disease
Name: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
OrphaCode: 641368
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to ERBIN deficiency
OrphaCode: 656912
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656300
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to IL6R deficiency
OrphaCode: 656326
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: Combined immunodeficiency due to RELA haploinsufficiency
OrphaCode: 596759
DisorderType: Disease
Name: Genetic urticaria
OrphaCode: 182734
DisorderType: Clinical group
Children: Name: Vibratory urticaria
OrphaCode: 493342
DisorderType: Disease
Name: Rare inborn errors of metabolism
OrphaCode: 68367
DisorderType: Category
Children: Name: Congenital disorder of glycosylation
OrphaCode: 137
DisorderType: Category
Children: Name: Disorder of protein N-glycosylation
OrphaCode: 309347
DisorderType: Category
Children: Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: ALG12-CDG
OrphaCode: 79324
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: MAN1B1-CDG
OrphaCode: 397941
DisorderType: Disease
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Disorder of protein O-glycosylation
OrphaCode: 309447
DisorderType: Category
Children: Name: Disorder of O-xylosylglycan synthesis
OrphaCode: 309450
DisorderType: Category
Children: Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: POGLUT1-related limb-girdle muscular dystrophy R21
OrphaCode: 480682
DisorderType: Disease
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Disorder of O-N-acetylgalactosaminylglycan synthesis
OrphaCode: 309458
DisorderType: Category
Children: Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
OrphaCode: 309463
DisorderType: Category
Children: Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Disorder of O-mannosylglycan synthesis
OrphaCode: 309469
DisorderType: Category
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: Congenital muscular dystrophy without intellectual disability
OrphaCode: 370980
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: Disorder of fucoglycosan synthesis
OrphaCode: 309505
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Dowling-Degos disease
OrphaCode: 79145
DisorderType: Disease
Name: Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
OrphaCode: 309515
DisorderType: Category
Children: Name: Autosomal recessive spastic paraplegia type 67
OrphaCode: 401820
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: Paroxysmal nocturnal hemoglobinuria
OrphaCode: 447
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Disorder of multiple glycosylation
OrphaCode: 309526
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Congenital dyserythropoietic anemia type II
OrphaCode: 98873
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Defect in conserved oligomeric Golgi complex
OrphaCode: 309568
DisorderType: Category
Children: Name: COG6-CGD
OrphaCode: 464443
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: COG5-CDG
OrphaCode: 263487
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: COG2-CDG
OrphaCode: 435934
DisorderType: Disease
Name: Defect in V-ATPase
OrphaCode: 309778
DisorderType: Category
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: PGM3-CDG
OrphaCode: 443811
DisorderType: Disease
Name: CAD-CDG
OrphaCode: 448010
DisorderType: Disease
Name: TMEM199-CDG
OrphaCode: 466703
DisorderType: Disease
Name: CCDC115-CDG
OrphaCode: 468684
DisorderType: Disease
Name: Lysosomal disease
OrphaCode: 68366
DisorderType: Category
Children: Name: Autosomal recessive spastic paraplegia type 48
OrphaCode: 306511
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Lysosomal acid phosphatase deficiency
OrphaCode: 35121
DisorderType: Disease
Name: Disorder of lysosomal amino acid transport
OrphaCode: 79207
DisorderType: Category
Children: Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Sphingolipidosis
OrphaCode: 79225
DisorderType: Category
Children: Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Gaucher disease
OrphaCode: 355
DisorderType: Disease
Children: Name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OrphaCode: 2072
DisorderType: Clinical subtype
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Fetal Gaucher disease
OrphaCode: 85212
DisorderType: Clinical subtype
Name: Atypical Gaucher disease due to saposin C deficiency
OrphaCode: 309252
DisorderType: Clinical subtype
Name: Lipid storage disease
OrphaCode: 79204
DisorderType: Category
Children: Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Lysosomal acid lipase deficiency
OrphaCode: 275761
DisorderType: Disease
Children: Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: Gangliosidosis
OrphaCode: 309144
DisorderType: Category
Children: Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Glycoproteinosis
OrphaCode: 309279
DisorderType: Category
Children: Name: Mucolipidosis
OrphaCode: 79212
DisorderType: Category
Children: Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Mucolipidosis type III
OrphaCode: 577
DisorderType: Disease
Children: Name: Mucolipidosis type III alpha/beta
OrphaCode: 423461
DisorderType: Clinical subtype
Name: Mucolipidosis type III gamma
OrphaCode: 423470
DisorderType: Clinical subtype
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Oligosaccharidosis
OrphaCode: 79215
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Sialidosis
OrphaCode: 309294
DisorderType: Clinical group
Children: Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Disorder of sialic acid metabolism
OrphaCode: 309319
DisorderType: Category
Children: Name: Sialuria
OrphaCode: 3166
DisorderType: Disease
Name: Lysosomal glycogen storage disease
OrphaCode: 309337
DisorderType: Category
Children: Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Peroxisomal disease
OrphaCode: 68373
DisorderType: Category
Children: Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Disorder of peroxisomal alpha-, beta- and omega-oxidation
OrphaCode: 309810
DisorderType: Category
Children: Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Acatalasemia
OrphaCode: 926
DisorderType: Disease
Name: Glutaric acidemia type 3
OrphaCode: 35706
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Peroxisomal beta-oxidation disorder
OrphaCode: 79188
DisorderType: Category
Children: Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Bifunctional enzyme deficiency
OrphaCode: 300
DisorderType: Disease
Name: Leukoencephalopathy-dystonia-motor neuropathy syndrome
OrphaCode: 163684
DisorderType: Disease
Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Disorder of plasmalogens biosynthesis
OrphaCode: 3276
DisorderType: Category
Children: Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Disorder of amino acid and other organic acid metabolism
OrphaCode: 79062
DisorderType: Category
Children: Name: Severe primary trimethylaminuria
OrphaCode: 468726
DisorderType: Disease
Name: Disorder of amino acid absorption and transport
OrphaCode: 79166
DisorderType: Category
Children: Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Cystinuria
OrphaCode: 214
DisorderType: Disease
Children: Name: Cystinuria type A
OrphaCode: 93612
DisorderType: Etiological subtype
Name: Cystinuria type B
OrphaCode: 93613
DisorderType: Etiological subtype
Name: Dicarboxylic aminoaciduria
OrphaCode: 2195
DisorderType: Disease
Name: Lysinuric protein intolerance
OrphaCode: 470
DisorderType: Disease
Name: Blue diaper syndrome
OrphaCode: 94086
DisorderType: Disease
Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: Disorder of neutral amino acid transport
OrphaCode: 308451
DisorderType: Category
Children: Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Iminoglycinuria
OrphaCode: 42062
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Disorder of urea cycle metabolism and ammonia detoxification
OrphaCode: 79167
DisorderType: Category
Children: Name: Argininemia
OrphaCode: 90
DisorderType: Disease
Name: Argininosuccinic aciduria
OrphaCode: 23
DisorderType: Disease
Name: Carbamoyl-phosphate synthetase 1 deficiency
OrphaCode: 147
DisorderType: Disease
Name: Citrullinemia
OrphaCode: 187
DisorderType: Category
Children: Name: Citrullinemia type I
OrphaCode: 247525
DisorderType: Disease
Children: Name: Acute neonatal citrullinemia type I
OrphaCode: 247546
DisorderType: Clinical subtype
Name: Late-onset citrullinemia type I
OrphaCode: 247573
DisorderType: Clinical subtype
Name: Citrin deficiency
OrphaCode: 247582
DisorderType: Category
Children: Name: Citrullinemia type II
OrphaCode: 247585
DisorderType: Disease
Name: Neonatal intrahepatic cholestasis due to citrin deficiency
OrphaCode: 247598
DisorderType: Disease
Name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
OrphaCode: 415
DisorderType: Disease
Name: Hyperammonemia due to N-acetylglutamate synthase deficiency
OrphaCode: 927
DisorderType: Disease
Name: Hyperinsulinism-hyperammonemia syndrome
OrphaCode: 35878
DisorderType: Disease
Name: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
OrphaCode: 401948
DisorderType: Disease
Name: Ornithine transcarbamylase deficiency
OrphaCode: 664
DisorderType: Disease
Name: Disorder of methionine cycle and sulfur amino acid metabolism
OrphaCode: 79173
DisorderType: Category
Children: Name: Autosomal recessive extra-oral halitosis
OrphaCode: 562538
DisorderType: Disease
Name: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
OrphaCode: 619979
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Cystathioninuria
OrphaCode: 212
DisorderType: Disease
Name: Homocystinuria without methylmalonic aciduria
OrphaCode: 622
DisorderType: Disease
Children: Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblG
OrphaCode: 2170
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblDv1
OrphaCode: 308380
DisorderType: Clinical subtype
Name: S-adenosylhomocysteine hydrolase deficiency
OrphaCode: 88618
DisorderType: Disease
Name: Methionine adenosyltransferase I/III deficiency
OrphaCode: 168598
DisorderType: Disease
Name: Hypermethioninemia encephalopathy due to adenosine kinase deficiency
OrphaCode: 289290
DisorderType: Disease
Name: Hypermethioninemia due to glycine N-methyltransferase deficiency
OrphaCode: 289891
DisorderType: Disease
Name: Beta-mercaptolactate cysteine disulfiduria
OrphaCode: 1035
DisorderType: Biological anomaly
Name: Disorder of histidine metabolism
OrphaCode: 79181
DisorderType: Category
Children: Name: Histidinemia
OrphaCode: 2157
DisorderType: Disease
Name: Urocanic aciduria
OrphaCode: 210128
DisorderType: Disease
Name: Histidinuria-renal tubular defect syndrome
OrphaCode: 2158
DisorderType: Disease
Name: Disorder of ornithine or proline metabolism
OrphaCode: 79185
DisorderType: Category
Children: Name: Disorder of proline metabolism
OrphaCode: 289866
DisorderType: Category
Children: Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Hyperprolinemia type 2
OrphaCode: 79101
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: Disorder of ornithine metabolism
OrphaCode: 289869
DisorderType: Category
Children: Name: Gyrate atrophy of choroid and retina
OrphaCode: 414
DisorderType: Disease
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: Disorder of peptide metabolism
OrphaCode: 79187
DisorderType: Category
Children: Name: Carnosinase deficiency
OrphaCode: 1361
DisorderType: Biological anomaly
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Disorder of phenylalanin or tyrosine metabolism
OrphaCode: 79190
DisorderType: Category
Children: Name: Disorder of phenylalanine metabolism
OrphaCode: 284814
DisorderType: Category
Children: Name: Phenylketonuria
OrphaCode: 716
DisorderType: Disease
Children: Name: Mild phenylketonuria
OrphaCode: 79253
DisorderType: Clinical subtype
Name: Classic phenylketonuria
OrphaCode: 79254
DisorderType: Clinical subtype
Name: Mild hyperphenylalaninemia
OrphaCode: 79651
DisorderType: Clinical subtype
Name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
OrphaCode: 293284
DisorderType: Clinical subtype
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Disorder of tyrosine metabolism
OrphaCode: 284818
DisorderType: Category
Children: Name: Alkaptonuria
OrphaCode: 56
DisorderType: Disease
Name: Hawkinsinuria
OrphaCode: 2118
DisorderType: Disease
Name: Transient tyrosinemia of the newborn
OrphaCode: 3402
DisorderType: Disease
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Tyrosinemia type 3
OrphaCode: 69723
DisorderType: Disease
Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Disorder of serine or glycine metabolism
OrphaCode: 79194
DisorderType: Category
Children: Name: Sarcosinemia
OrphaCode: 3129
DisorderType: Disease
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Neurometabolic disorder due to serine deficiency
OrphaCode: 35705
DisorderType: Category
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OrphaCode: 447997
DisorderType: Disease
Name: Serine biosynthesis pathway deficiency, infantile/juvenile form
OrphaCode: 583595
DisorderType: Disease
Children: Name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OrphaCode: 79351
DisorderType: Etiological subtype
Name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
OrphaCode: 79350
DisorderType: Etiological subtype
Name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
OrphaCode: 284417
DisorderType: Etiological subtype
Name: Dimethylglycine dehydrogenase deficiency
OrphaCode: 243343
DisorderType: Disease
Name: Disorder of the gamma-glutamyl cycle
OrphaCode: 79196
DisorderType: Category
Children: Name: Glutathione synthetase deficiency
OrphaCode: 32
DisorderType: Disease
Children: Name: Glutathione synthetase deficiency with 5-oxoprolinuria
OrphaCode: 289846
DisorderType: Clinical subtype
Name: Glutathione synthetase deficiency without 5-oxoprolinuria
OrphaCode: 289849
DisorderType: Clinical subtype
Name: 5-oxoprolinase deficiency
OrphaCode: 33572
DisorderType: Disease
Name: Gamma-glutamyl transpeptidase deficiency
OrphaCode: 33573
DisorderType: Disease
Name: Glutamate-cysteine ligase deficiency
OrphaCode: 33574
DisorderType: Disease
Name: Disorder of branched-chain amino acid metabolism
OrphaCode: 79197
DisorderType: Category
Children: Name: Maple syrup urine disease
OrphaCode: 511
DisorderType: Disease
Children: Name: Classic maple syrup urine disease
OrphaCode: 268145
DisorderType: Clinical subtype
Name: Intermediate maple syrup urine disease
OrphaCode: 268162
DisorderType: Clinical subtype
Name: Intermittent maple syrup urine disease
OrphaCode: 268173
DisorderType: Clinical subtype
Name: Thiamine-responsive maple syrup urine disease
OrphaCode: 268184
DisorderType: Clinical subtype
Name: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
OrphaCode: 289307
DisorderType: Disease
Name: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
OrphaCode: 308410
DisorderType: Disease
Name: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
OrphaCode: 401948
DisorderType: Disease
Name: Disorder of tryptophan metabolism
OrphaCode: 289829
DisorderType: Category
Children: Name: Hypertryptophanemia
OrphaCode: 2224
DisorderType: Disease
Name: Hydroxykynureninuria
OrphaCode: 79155
DisorderType: Disease
Name: Disorder of lysine and hydroxylysine metabolism
OrphaCode: 289832
DisorderType: Category
Children: Name: Hyperlysinemia
OrphaCode: 2203
DisorderType: Disease
Name: Saccharopinuria
OrphaCode: 3124
DisorderType: Disease
Name: 2-aminoadipic 2-oxoadipic aciduria
OrphaCode: 79154
DisorderType: Disease
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: Disorder of glutamine metabolism
OrphaCode: 289841
DisorderType: Category
Children: Name: Spastic ataxia-dysarthria due to glutaminase deficiency
OrphaCode: 557056
DisorderType: Disease
Name: Neonatal epileptic encephalopathy due to glutaminase deficiency
OrphaCode: 557064
DisorderType: Disease
Name: Congenital brain dysgenesis due to glutamine synthetase deficiency
OrphaCode: 71278
DisorderType: Disease
Name: Organic aciduria
OrphaCode: 289899
DisorderType: Category
Children: Name: Cerebral organic aciduria
OrphaCode: 79158
DisorderType: Category
Children: Name: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
OrphaCode: 653880
DisorderType: Disease
Name: 2-hydroxyglutaric aciduria
OrphaCode: 19
DisorderType: Clinical group
Children: Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: D-2-hydroxyglutaric aciduria
OrphaCode: 79315
DisorderType: Disease
Name: D,L-2-hydroxyglutaric aciduria
OrphaCode: 356978
DisorderType: Disease
Name: Glutaryl-CoA dehydrogenase deficiency
OrphaCode: 25
DisorderType: Disease
Name: Aminoacylase deficiency
OrphaCode: 308448
DisorderType: Clinical group
Children: Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Aminoacylase 1 deficiency
OrphaCode: 137754
DisorderType: Disease
Name: HSD10 disease
OrphaCode: 391417
DisorderType: Disease
Children: Name: HSD10 disease, atypical type
OrphaCode: 85295
DisorderType: Clinical subtype
Name: HSD10 disease, infantile type
OrphaCode: 391428
DisorderType: Clinical subtype
Name: HSD10 disease, neonatal type
OrphaCode: 391457
DisorderType: Clinical subtype
Name: Classic organic aciduria
OrphaCode: 79163
DisorderType: Category
Children: Name: Isovaleric acidemia
OrphaCode: 33
DisorderType: Disease
Name: Multiple carboxylase deficiency
OrphaCode: 148
DisorderType: Clinical group
Children: Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Holocarboxylase synthetase deficiency
OrphaCode: 79242
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria
OrphaCode: 26
DisorderType: Disease
Children: Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblD
OrphaCode: 79283
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria type cblF
OrphaCode: 79284
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblJ
OrphaCode: 369955
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblX
OrphaCode: 369962
DisorderType: Clinical subtype
Name: Beta-ketothiolase deficiency
OrphaCode: 134
DisorderType: Disease
Name: 3-hydroxyisobutyric aciduria
OrphaCode: 939
DisorderType: Disease
Name: 3-hydroxy-3-methylglutaric aciduria
OrphaCode: 20
DisorderType: Disease
Name: 3-methylcrotonyl-CoA carboxylase deficiency
OrphaCode: 6
DisorderType: Disease
Name: Propionic acidemia
OrphaCode: 35
DisorderType: Disease
Name: 2-methylbutyryl-CoA dehydrogenase deficiency
OrphaCode: 79157
DisorderType: Disease
Name: Isobutyryl-CoA dehydrogenase deficiency
OrphaCode: 79159
DisorderType: Disease
Name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
OrphaCode: 88639
DisorderType: Disease
Name: Combined malonic and methylmalonic acidemia
OrphaCode: 289504
DisorderType: Disease
Name: 3-methylglutaconic aciduria
OrphaCode: 289902
DisorderType: Clinical group
Children: Name: 3-methylglutaconic aciduria type 8
OrphaCode: 505208
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Dilated cardiomyopathy with ataxia
OrphaCode: 66634
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 1
OrphaCode: 67046
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 3
OrphaCode: 67047
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 4
OrphaCode: 67048
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: Methylmalonic acidemia without homocystinuria
OrphaCode: 293355
DisorderType: Clinical group
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia
OrphaCode: 28
DisorderType: Disease
Children: Name: Vitamin B12-responsive methylmalonic acidemia type cblA
OrphaCode: 79310
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblB
OrphaCode: 79311
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
OrphaCode: 308442
DisorderType: Clinical subtype
Name: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
OrphaCode: 308425
DisorderType: Disease
Name: Disorder of beta and omega amino acid metabolism
OrphaCode: 308407
DisorderType: Category
Children: Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Disorder of melanin metabolism
OrphaCode: 352728
DisorderType: Category
Children: Name: Oculocutaneous albinism
OrphaCode: 55
DisorderType: Clinical group
Children: Name: Oculocutaneous albinism type 2
OrphaCode: 79432
DisorderType: Disease
Name: Oculocutaneous albinism type 3
OrphaCode: 79433
DisorderType: Disease
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Oculocutaneous albinism type 1
OrphaCode: 352731
DisorderType: Disease
Children: Name: Oculocutaneous albinism type 1A
OrphaCode: 79431
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Minimal pigment oculocutaneous albinism type 1
OrphaCode: 352734
DisorderType: Clinical subtype
Name: Temperature-sensitive oculocutaneous albinism type 1
OrphaCode: 352737
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 7
OrphaCode: 352745
DisorderType: Disease
Name: Oculocutaneous albinism type 5
OrphaCode: 370091
DisorderType: Disease
Name: Oculocutaneous albinism type 6
OrphaCode: 370097
DisorderType: Disease
Name: Oculocutaneous albinism type 8
OrphaCode: 597733
DisorderType: Disease
Name: Ocular albinism
OrphaCode: 284804
DisorderType: Clinical group
Children: Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: X-linked recessive ocular albinism
OrphaCode: 54
DisorderType: Disease
Name: Disorder of asparagine metabolism
OrphaCode: 391381
DisorderType: Category
Children: Name: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
OrphaCode: 391376
DisorderType: Disease
Name: Disorder of carbohydrate metabolism
OrphaCode: 79161
DisorderType: Category
Children: Name: Gluconeogenesis disorder
OrphaCode: 79177
DisorderType: Category
Children: Name: Fructose-1,6-bisphosphatase deficiency
OrphaCode: 348
DisorderType: Disease
Name: Phosphoenolpyruvate carboxykinase deficiency
OrphaCode: 2880
DisorderType: Disease
Name: Pyruvate carboxylase deficiency
OrphaCode: 3008
DisorderType: Disease
Children: Name: Pyruvate carboxylase deficiency, infantile type
OrphaCode: 353308
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, severe neonatal type
OrphaCode: 353314
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, benign type
OrphaCode: 353320
DisorderType: Clinical subtype
Name: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
OrphaCode: 401948
DisorderType: Disease
Name: Disorder of glycerol metabolism
OrphaCode: 79179
DisorderType: Category
Children: Name: Glycerol kinase deficiency
OrphaCode: 308993
DisorderType: Clinical group
Children: Name: Isolated glycerol kinase deficiency
OrphaCode: 408
DisorderType: Disease
Children: Name: Glycerol kinase deficiency, juvenile form
OrphaCode: 284411
DisorderType: Clinical subtype
Name: Glycerol kinase deficiency, adult form
OrphaCode: 284414
DisorderType: Clinical subtype
Name: Xp21 deletion syndrome
OrphaCode: 261476
DisorderType: Disease
Name: Glycogen storage disease
OrphaCode: 79201
DisorderType: Category
Children: Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
OrphaCode: 368
DisorderType: Disease
Name: Glycogen storage disease due to liver glycogen phosphorylase deficiency
OrphaCode: 369
DisorderType: Disease
Name: Glycogen storage disease due to muscle phosphofructokinase deficiency
OrphaCode: 371
DisorderType: Disease
Name: Glycogen storage disease due to phosphorylase kinase deficiency
OrphaCode: 370
DisorderType: Clinical group
Children: Name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
OrphaCode: 715
DisorderType: Disease
Name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OrphaCode: 79240
DisorderType: Disease
Name: Glycogen storage disease due to liver phosphorylase kinase deficiency
OrphaCode: 264580
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Glycogen storage disease due to aldolase A deficiency
OrphaCode: 57
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Glycogen storage disease due to lactate dehydrogenase deficiency
OrphaCode: 2364
DisorderType: Disease
Children: Name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
OrphaCode: 284426
DisorderType: Clinical subtype
Name: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
OrphaCode: 284435
DisorderType: Clinical subtype
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate mutase deficiency
OrphaCode: 97234
DisorderType: Disease
Name: Glycogen storage disease due to muscle beta-enolase deficiency
OrphaCode: 99849
DisorderType: Disease
Name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
OrphaCode: 263297
DisorderType: Disease
Name: Glycogen storage disease due to glycogen synthase deficiency
OrphaCode: 308520
DisorderType: Clinical group
Children: Name: Glycogen storage disease due to hepatic glycogen synthase deficiency
OrphaCode: 2089
DisorderType: Disease
Name: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
OrphaCode: 137625
DisorderType: Disease
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
OrphaCode: 439854
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: Polyglucosan body myopathy type 2
OrphaCode: 456369
DisorderType: Disease
Name: Disorder of glycolysis
OrphaCode: 308459
DisorderType: Category
Children: Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Hemolytic anemia due to glucophosphate isomerase deficiency
OrphaCode: 712
DisorderType: Disease
Name: Congenital glucokinase-related hyperinsulinism
OrphaCode: 79299
DisorderType: Disease
Name: Disorder of fructose metabolism
OrphaCode: 308463
DisorderType: Category
Children: Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Fructose-1,6-bisphosphatase deficiency
OrphaCode: 348
DisorderType: Disease
Name: Essential fructosuria
OrphaCode: 2056
DisorderType: Disease
Name: Disorder of galactose metabolism
OrphaCode: 308467
DisorderType: Category
Children: Name: Galactosemia
OrphaCode: 352
DisorderType: Category
Children: Name: Galactokinase deficiency
OrphaCode: 79237
DisorderType: Disease
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Galactose mutarotase deficiency
OrphaCode: 570422
DisorderType: Disease
Name: Disorder of glyoxylate metabolism
OrphaCode: 308998
DisorderType: Category
Children: Name: D-glyceric aciduria
OrphaCode: 941
DisorderType: Disease
Name: Primary hyperoxaluria
OrphaCode: 416
DisorderType: Disease
Children: Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 2
OrphaCode: 93599
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 3
OrphaCode: 93600
DisorderType: Clinical subtype
Name: Disorder of carbohydrate absorption and transport
OrphaCode: 309001
DisorderType: Category
Children: Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Congenital sucrase-isomaltase deficiency
OrphaCode: 35122
DisorderType: Disease
Name: Congenital lactase deficiency
OrphaCode: 53690
DisorderType: Disease
Name: Glucose transport disorder
OrphaCode: 79178
DisorderType: Category
Children: Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Glucose-galactose malabsorption
OrphaCode: 35710
DisorderType: Disease
Name: Familial renal glucosuria
OrphaCode: 69076
DisorderType: Disease
Name: Classic glucose transporter type 1 deficiency syndrome
OrphaCode: 71277
DisorderType: Disease
Name: Chronic diarrhea due to glucoamylase deficiency
OrphaCode: 103907
DisorderType: Disease
Name: Trehalase deficiency
OrphaCode: 103909
DisorderType: Disease
Name: Exercise-induced hyperinsulinism
OrphaCode: 165991
DisorderType: Disease
Name: Juvenile cataract-microcornea-renal glucosuria syndrome
OrphaCode: 247794
DisorderType: Disease
Name: Disorders of pentose/polyol metabolism
OrphaCode: 440701
DisorderType: Category
Children: Name: Pentosuria
OrphaCode: 2843
DisorderType: Disease
Name: Disorder of pentose phosphate metabolism
OrphaCode: 79186
DisorderType: Category
Children: Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Transaldolase deficiency
OrphaCode: 101028
DisorderType: Disease
Name: Ribose-5-P isomerase deficiency
OrphaCode: 440706
DisorderType: Disease
Name: Isolated sedoheptulokinase deficiency
OrphaCode: 440713
DisorderType: Disease
Name: Disorder of energy metabolism
OrphaCode: 79200
DisorderType: Category
Children: Name: Mitochondrial disease
OrphaCode: 68380
DisorderType: Category
Children: Name: Mitochondrial oxidative phosphorylation disorder
OrphaCode: 223713
DisorderType: Category
Children: Name: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
OrphaCode: 2443
DisorderType: Category
Children: Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: Parkinsonism with polyneuropathy
OrphaCode: 611237
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Fatal infantile cytochrome C oxidase deficiency
OrphaCode: 1561
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: Mitochondrial disorder due to a defect in mitochondrial protein synthesis
OrphaCode: 35696
DisorderType: Category
Children: Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
OrphaCode: 137681
DisorderType: Disease
Name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OrphaCode: 137898
DisorderType: Disease
Name: Hypotonia with lactic acidemia and hyperammonemia
OrphaCode: 137908
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
OrphaCode: 168566
DisorderType: Disease
Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OrphaCode: 217371
DisorderType: Disease
Name: Severe X-linked mitochondrial encephalomyopathy
OrphaCode: 238329
DisorderType: Disease
Name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
OrphaCode: 254343
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 2
OrphaCode: 254920
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 4
OrphaCode: 254925
DisorderType: Disease
Name: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
OrphaCode: 314051
DisorderType: Disease
Name: Autosomal recessive spastic ataxia with leukoencephalopathy
OrphaCode: 314603
DisorderType: Disease
Name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
OrphaCode: 314637
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 8
OrphaCode: 319504
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 9
OrphaCode: 319509
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 13
OrphaCode: 319514
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 14
OrphaCode: 319519
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 15
OrphaCode: 319524
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 11
OrphaCode: 324535
DisorderType: Disease
Name: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
OrphaCode: 352563
DisorderType: Disease
Name: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
OrphaCode: 363694
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 17
OrphaCode: 369913
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 20
OrphaCode: 420728
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 21
OrphaCode: 420733
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 24
OrphaCode: 444458
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 39
OrphaCode: 565624
DisorderType: Disease
Name: Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
OrphaCode: 528091
DisorderType: Disease
Name: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
OrphaCode: 457223
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 30
OrphaCode: 478042
DisorderType: Disease
Name: Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
OrphaCode: 466784
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 27
OrphaCode: 477774
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 26
OrphaCode: 477684
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 77
OrphaCode: 466722
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 29
OrphaCode: 478029
DisorderType: Disease
Name: QRSL1-related combined oxidative phosphorylation defect
OrphaCode: 570491
DisorderType: Disease
Name: WARS2-related combined oxidative phosphorylation defect
OrphaCode: 572798
DisorderType: Disease
Name: Pancreatic insufficiency-anemia-hyperostosis syndrome
OrphaCode: 199337
DisorderType: Disease
Name: Mitochondrial oxidative phosphorylation disorder with no known mechanism
OrphaCode: 254822
DisorderType: Category
Children: Name: Zellweger-like syndrome without peroxisomal anomalies
OrphaCode: 50812
DisorderType: Disease
Name: Autosomal dominant optic atrophy and cataract
OrphaCode: 67036
DisorderType: Disease
Name: Autosomal dominant optic atrophy, classic form
OrphaCode: 98673
DisorderType: Disease
Name: FASTKD2-related infantile mitochondrial encephalomyopathy
OrphaCode: 166105
DisorderType: Disease
Name: Autosomal recessive optic atrophy, OPA7 type
OrphaCode: 227976
DisorderType: Disease
Name: Autosomal dominant optic atrophy and peripheral neuropathy
OrphaCode: 250932
DisorderType: Disease
Name: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
OrphaCode: 391348
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: Autosomal dominant mitochondrial myopathy with exercise intolerance
OrphaCode: 457050
DisorderType: Disease
Name: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
OrphaCode: 309136
DisorderType: Category
Children: Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: TMEM70-related mitochondrial encephalo-cardio-myopathy
OrphaCode: 1194
DisorderType: Disease
Name: Björnstad syndrome
OrphaCode: 123
DisorderType: Disease
Name: GRACILE syndrome
OrphaCode: 53693
DisorderType: Disease
Name: Exercise intolerance with lactic acidosis
OrphaCode: 254843
DisorderType: Clinical group
Children: Name: Hereditary myopathy with lactic acidosis due to ISCU deficiency
OrphaCode: 43115
DisorderType: Disease
Name: Acyl-CoA dehydrogenase 9 deficiency
OrphaCode: 99901
DisorderType: Disease
Name: Renal tubulopathy-encephalopathy-liver failure syndrome
OrphaCode: 254902
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome
OrphaCode: 289573
DisorderType: Clinical group
Children: Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 3
OrphaCode: 363424
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 1
OrphaCode: 401869
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 2
OrphaCode: 401874
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
OrphaCode: 397593
DisorderType: Disease
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: Mitochondrial DNA maintenance syndrome
OrphaCode: 352456
DisorderType: Category
Children: Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome
OrphaCode: 35698
DisorderType: Category
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form
OrphaCode: 254803
DisorderType: Clinical group
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Fatal infantile lactic acidosis with methylmalonic aciduria
OrphaCode: 17
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
OrphaCode: 369897
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form
OrphaCode: 254871
DisorderType: Clinical group
Children: Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Navajo neurohepatopathy
OrphaCode: 255229
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
OrphaCode: 279934
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
OrphaCode: 313772
DisorderType: Disease
Name: Multiple mitochondrial DNA deletion syndrome
OrphaCode: 254807
DisorderType: Category
Children: Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Ataxia neuropathy spectrum
OrphaCode: 254818
DisorderType: Clinical group
Children: Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Spinocerebellar ataxia with epilepsy
OrphaCode: 254881
DisorderType: Disease
Name: Autosomal recessive progressive external ophthalmoplegia
OrphaCode: 254886
DisorderType: Disease
Name: Autosomal dominant progressive external ophthalmoplegia
OrphaCode: 254892
DisorderType: Disease
Name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
OrphaCode: 329314
DisorderType: Disease
Name: DNA2-related mitochondrial DNA deletion syndrome
OrphaCode: 352470
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: SURF1-related Charcot-Marie-Tooth disease type 4
OrphaCode: 391351
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
OrphaCode: 435998
DisorderType: Disease
Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
OrphaCode: 254758
DisorderType: Category
Children: Name: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
OrphaCode: 254767
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Pearson syndrome
OrphaCode: 699
DisorderType: Disease
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Chronic diarrhea with villous atrophy
OrphaCode: 1670
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
OrphaCode: 254776
DisorderType: Category
Children: Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Leber hereditary optic neuropathy
OrphaCode: 104
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Rare mitochondrial non-syndromic sensorineural deafness
OrphaCode: 90641
DisorderType: Etiological subtype
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: Mitochondrial DNA-related mitochondrial myopathy
OrphaCode: 254788
DisorderType: Clinical group
Children: Name: Myopathy and diabetes mellitus
OrphaCode: 2596
DisorderType: Disease
Name: Pure mitochondrial myopathy
OrphaCode: 254854
DisorderType: Disease
Name: Lethal infantile mitochondrial myopathy
OrphaCode: 254857
DisorderType: Disease
Name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
OrphaCode: 254864
DisorderType: Disease
Name: Mitochondrial DNA-related dystonia
OrphaCode: 254851
DisorderType: Disease
Name: Mitochondrial DNA-associated Leigh syndrome
OrphaCode: 255210
DisorderType: Disease
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Periodic paralysis with later-onset distal motor neuropathy
OrphaCode: 397750
DisorderType: Disease
Name: Mitochondrial DNA-related cardiomyopathy and hearing loss
OrphaCode: 1349
DisorderType: Malformation syndrome
Name: Isolated oxidative phosphorylation complex disorder
OrphaCode: 254846
DisorderType: Category
Children: Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Isolated succinate-CoQ reductase deficiency
OrphaCode: 3208
DisorderType: Disease
Name: Isolated complex III deficiency
OrphaCode: 1460
DisorderType: Disease
Name: Isolated cytochrome C oxidase deficiency
OrphaCode: 254905
DisorderType: Disease
Name: Isolated ATP synthase deficiency
OrphaCode: 254913
DisorderType: Disease
Name: Mitochondrial membrane transport disorder
OrphaCode: 254827
DisorderType: Category
Children: Name: Mitochondrial substrate carrier disorder
OrphaCode: 254830
DisorderType: Category
Children: Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Early myoclonic encephalopathy
OrphaCode: 1935
DisorderType: Clinical syndrome
Name: Cardiomyopathy-hypotonia-lactic acidosis syndrome
OrphaCode: 91130
DisorderType: Disease
Name: Adult-onset autosomal recessive sideroblastic anemia
OrphaCode: 255132
DisorderType: Disease
Name: Epileptic encephalopathy with global cerebral demyelination
OrphaCode: 353217
DisorderType: Disease
Name: Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
OrphaCode: 466784
DisorderType: Disease
Name: Mitochondrial protein import disorder
OrphaCode: 254834
DisorderType: Category
Children: Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Unspecified mitochondrial disorder
OrphaCode: 254837
DisorderType: Clinical group
Children: Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: X-linked sideroblastic anemia and spinocerebellar ataxia
OrphaCode: 2802
DisorderType: Disease
Name: Ethylmalonic encephalopathy
OrphaCode: 51188
DisorderType: Disease
Name: Autosomal dominant optic atrophy
OrphaCode: 98672
DisorderType: Clinical group
Children: Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Autosomal dominant optic atrophy and cataract
OrphaCode: 67036
DisorderType: Disease
Name: Autosomal dominant optic atrophy, classic form
OrphaCode: 98673
DisorderType: Disease
Name: Autosomal dominant optic atrophy and peripheral neuropathy
OrphaCode: 250932
DisorderType: Disease
Name: Histiocytoid cardiomyopathy
OrphaCode: 137675
DisorderType: Disease
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Lipoic acid biosynthesis defect
OrphaCode: 401854
DisorderType: Category
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Multiple mitochondrial dysfunctions syndrome
OrphaCode: 289573
DisorderType: Clinical group
Children: Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 3
OrphaCode: 363424
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 1
OrphaCode: 401869
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 2
OrphaCode: 401874
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Lipoic acid synthetase deficiency
OrphaCode: 401859
DisorderType: Disease
Name: Lipoyl transferase 1 deficiency
OrphaCode: 401862
DisorderType: Disease
Name: Childhood-onset spasticity with hyperglycinemia
OrphaCode: 401866
DisorderType: Disease
Name: Lipoyl transferase 2 deficiency
OrphaCode: 447795
DisorderType: Biological anomaly
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: Creatine deficiency syndrome
OrphaCode: 79172
DisorderType: Clinical group
Children: Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: L-Arginine:glycine amidinotransferase deficiency
OrphaCode: 35704
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Disorder of fatty acid oxidation and ketone body metabolism
OrphaCode: 79174
DisorderType: Category
Children: Name: Disorder of ketolysis
OrphaCode: 79183
DisorderType: Category
Children: Name: Beta-ketothiolase deficiency
OrphaCode: 134
DisorderType: Disease
Name: Succinyl-CoA:3-oxoacid CoA transferase deficiency
OrphaCode: 832
DisorderType: Disease
Name: Disorder of fatty acid oxidation and ketogenesis
OrphaCode: 309115
DisorderType: Category
Children: Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: 3-hydroxy-3-methylglutaric aciduria
OrphaCode: 20
DisorderType: Disease
Name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
OrphaCode: 35701
DisorderType: Disease
Name: Acyl-CoA dehydrogenase deficiency
OrphaCode: 309120
DisorderType: Clinical group
Children: Name: Medium chain acyl-CoA dehydrogenase deficiency
OrphaCode: 42
DisorderType: Disease
Name: Multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 26791
DisorderType: Disease
Children: Name: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
OrphaCode: 394529
DisorderType: Clinical subtype
Name: Multiple acyl-CoA dehydrogenase deficiency, mild type
OrphaCode: 394532
DisorderType: Clinical subtype
Name: Short chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26792
DisorderType: Disease
Name: Very long chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26793
DisorderType: Disease
Name: Transient neonatal multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 329942
DisorderType: Disease
Name: 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 309127
DisorderType: Clinical group
Children: Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Disorder of carnitine cycle and carnitine transport
OrphaCode: 309130
DisorderType: Category
Children: Name: Carnitine palmitoyltransferase II deficiency
OrphaCode: 157
DisorderType: Disease
Children: Name: Carnitine palmitoyl transferase II deficiency, myopathic form
OrphaCode: 228302
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, severe infantile form
OrphaCode: 228305
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, neonatal form
OrphaCode: 228308
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase 1A deficiency
OrphaCode: 156
DisorderType: Disease
Name: Systemic primary carnitine deficiency
OrphaCode: 158
DisorderType: Disease
Name: Carnitine-acylcarnitine translocase deficiency
OrphaCode: 159
DisorderType: Disease
Name: Metabolic disease due to other fatty acid oxidation disorder
OrphaCode: 309133
DisorderType: Category
Children: Name: Malonic aciduria
OrphaCode: 943
DisorderType: Disease
Name: Disorder of keton body transport
OrphaCode: 438072
DisorderType: Category
Children: Name: Ketoacidosis due to monocarboxylate transporter-1 deficiency
OrphaCode: 438075
DisorderType: Disease
Name: Pyruvate metabolism disorder
OrphaCode: 254746
DisorderType: Category
Children: Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Hemolytic anemia due to red cell pyruvate kinase deficiency
OrphaCode: 766
DisorderType: Disease
Name: Mitochondrial pyruvate carrier deficiency
OrphaCode: 447784
DisorderType: Disease
Name: Tricarboxylic acid cycle disorder
OrphaCode: 254749
DisorderType: Category
Children: Name: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
OrphaCode: 615964
DisorderType: Disease
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Disorder of biogenic amine metabolism and transport
OrphaCode: 79214
DisorderType: Category
Children: Name: Disorder of neurotransmitter metabolism and transport
OrphaCode: 79169
DisorderType: Category
Children: Name: Monoamine oxidase A deficiency
OrphaCode: 3057
DisorderType: Disease
Name: Disorder of pterin metabolism
OrphaCode: 309819
DisorderType: Category
Children: Name: Dopa-responsive dystonia
OrphaCode: 255
DisorderType: Clinical group
Children: Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
OrphaCode: 238583
DisorderType: Disease
Children: Name: Dihydropteridine reductase deficiency
OrphaCode: 226
DisorderType: Clinical subtype
Name: 6-pyruvoyl-tetrahydropterin synthase deficiency
OrphaCode: 13
DisorderType: Clinical subtype
Name: GTP cyclohydrolase I deficiency
OrphaCode: 2102
DisorderType: Clinical subtype
Name: Pterin-4 alpha-carbinolamine dehydratase deficiency
OrphaCode: 1578
DisorderType: Clinical subtype
Name: Hyperphenylalaninemia due to DNAJC12 deficiency
OrphaCode: 508523
DisorderType: Disease
Name: Disorder of catecholamine synthesis
OrphaCode: 309830
DisorderType: Category
Children: Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Aromatic L-amino acid decarboxylase deficiency
OrphaCode: 35708
DisorderType: Disease
Name: Brain dopamine-serotonin vesicular transport disease
OrphaCode: 352649
DisorderType: Disease
Name: Disorder of gamma-aminobutyric acid metabolism
OrphaCode: 79175
DisorderType: Category
Children: Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Disorder of pyridoxine metabolism
OrphaCode: 79192
DisorderType: Category
Children: Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Metabolic disease involving other neurotransmitter deficiency
OrphaCode: 79219
DisorderType: Category
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Hereditary butyrylcholinesterase deficiency
OrphaCode: 132
DisorderType: Disease
Name: Folinic acid-responsive seizures
OrphaCode: 79097
DisorderType: Disease
Name: Disorder of purine or pyrimidine metabolism
OrphaCode: 79224
DisorderType: Category
Children: Name: Disorder of purine metabolism
OrphaCode: 79191
DisorderType: Category
Children: Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Adenosine monophosphate deaminase deficiency
OrphaCode: 45
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Hereditary xanthinuria
OrphaCode: 3467
DisorderType: Disease
Children: Name: Xanthinuria type I
OrphaCode: 93601
DisorderType: Etiological subtype
Name: Xanthinuria type II
OrphaCode: 93602
DisorderType: Etiological subtype
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: Adenine phosphoribosyltransferase deficiency
OrphaCode: 976
DisorderType: Disease
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 3222
DisorderType: Disease
Children: Name: Mild phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411536
DisorderType: Clinical subtype
Name: Severe phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411543
DisorderType: Clinical subtype
Name: Severe combined immunodeficiency due to adenosine deaminase deficiency
OrphaCode: 277
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
OrphaCode: 99138
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: AICA-ribosiduria
OrphaCode: 250977
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
OrphaCode: 279934
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: PAICS deficiency
OrphaCode: 633099
DisorderType: Malformation syndrome
Name: Disorder of pyrimidine metabolism
OrphaCode: 79193
DisorderType: Category
Children: Name: Hereditary orotic aciduria
OrphaCode: 30
DisorderType: Disease
Name: Dihydropyrimidine dehydrogenase deficiency
OrphaCode: 1675
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
OrphaCode: 35120
DisorderType: Disease
Name: Dihydropyrimidinuria
OrphaCode: 38874
DisorderType: Disease
Name: Beta-ureidopropionase deficiency
OrphaCode: 65287
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Hyper-beta-alaninemia
OrphaCode: 309147
DisorderType: Disease
Name: CAD-CDG
OrphaCode: 448010
DisorderType: Disease
Name: Other metabolic disease
OrphaCode: 91088
DisorderType: Category
Children: Name: Congenital isolated hyperinsulinism
OrphaCode: 657
DisorderType: Clinical group
Children: Name: Diazoxide-sensitive diffuse hyperinsulinism
OrphaCode: 165985
DisorderType: Clinical group
Children: Name: Hyperinsulinism-hyperammonemia syndrome
OrphaCode: 35878
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Congenital glucokinase-related hyperinsulinism
OrphaCode: 79299
DisorderType: Disease
Name: Exercise-induced hyperinsulinism
OrphaCode: 165991
DisorderType: Disease
Name: Congenital hyperinsulinism due to HNF4A deficiency
OrphaCode: 263455
DisorderType: Disease
Name: Hyperinsulinism due to UCP2 deficiency
OrphaCode: 276556
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
OrphaCode: 276575
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276580
DisorderType: Disease
Name: Hyperinsulinism due to HNF1A deficiency
OrphaCode: 324575
DisorderType: Disease
Name: Diazoxide-resistant hyperinsulinism
OrphaCode: 276585
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism
OrphaCode: 79298
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
OrphaCode: 276598
DisorderType: Disease
Name: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276603
DisorderType: Disease
Name: Diazoxide-resistant diffuse hyperinsulinism
OrphaCode: 165988
DisorderType: Clinical group
Children: Name: Autosomal recessive hyperinsulinism due to SUR1 deficiency
OrphaCode: 79643
DisorderType: Disease
Name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 79644
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Hemolytic anemia due to diphosphoglycerate mutase deficiency
OrphaCode: 714
DisorderType: Disease
Name: Brachytelephalangic chondrodysplasia punctata
OrphaCode: 79345
DisorderType: Malformation syndrome
Name: Hypotonia-failure to thrive-microcephaly syndrome
OrphaCode: 79507
DisorderType: Disease
Name: Genetic recurrent myoglobinuria
OrphaCode: 99845
DisorderType: Disease
Name: Autosomal dominant myoglobinuria
OrphaCode: 99846
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: NAD(P)HX dehydratase deficiency
OrphaCode: 555402
DisorderType: Disease
Name: NAD(P)HX epimerase deficiency
OrphaCode: 555407
DisorderType: Disease
Name: Disorder of lipid metabolism
OrphaCode: 309005
DisorderType: Category
Children: Name: Sterol metabolism disorder
OrphaCode: 79226
DisorderType: Category
Children: Name: Disorder of bile acid synthesis
OrphaCode: 79168
DisorderType: Category
Children: Name: Bile acid synthesis defect with cholestasis and malabsorption
OrphaCode: 163631
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Congenital bile acid synthesis defect
OrphaCode: 485631
DisorderType: Clinical group
Children: Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 1
OrphaCode: 79301
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 3
OrphaCode: 79302
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 2
OrphaCode: 79303
DisorderType: Disease
Name: Familial hypercholanemia
OrphaCode: 238475
DisorderType: Disease
Name: Bile acid CoA ligase deficiency and defective amidation
OrphaCode: 276066
DisorderType: Disease
Name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
OrphaCode: 209902
DisorderType: Disease
Name: Sterol biosynthesis disorder
OrphaCode: 79195
DisorderType: Category
Children: Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Rare dyslipidemia
OrphaCode: 101953
DisorderType: Category
Children: Name: Rare hyperlipidemia
OrphaCode: 181422
DisorderType: Category
Children: Name: Dysbetalipoproteinemia
OrphaCode: 412
DisorderType: Disease
Name: Hyperalphalipoproteinemia
OrphaCode: 181428
DisorderType: Clinical group
Children: Name: Cholesterol-ester transfer protein deficiency
OrphaCode: 79506
DisorderType: Disease
Name: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
OrphaCode: 140905
DisorderType: Disease
Name: Familial chylomicronemia syndrome
OrphaCode: 444490
DisorderType: Disease
Children: Name: Familial lipoprotein lipase deficiency
OrphaCode: 309015
DisorderType: Etiological subtype
Name: Familial apolipoprotein C-II deficiency
OrphaCode: 309020
DisorderType: Etiological subtype
Name: Familial lipase maturation factor 1 deficiency
OrphaCode: 535453
DisorderType: Etiological subtype
Name: Familial GPIHBP1 deficiency
OrphaCode: 535458
DisorderType: Etiological subtype
Name: Familial apolipoprotein A5 deficiency
OrphaCode: 530849
DisorderType: Etiological subtype
Name: Rare hypercholesterolemia
OrphaCode: 477811
DisorderType: Category
Children: Name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
OrphaCode: 209902
DisorderType: Disease
Name: Homozygous familial hypercholesterolemia
OrphaCode: 391665
DisorderType: Disease
Name: TMEM199-CDG
OrphaCode: 466703
DisorderType: Disease
Name: CCDC115-CDG
OrphaCode: 468684
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Rare hypolipidemia
OrphaCode: 181431
DisorderType: Category
Children: Name: Hypoalphalipoproteinemia
OrphaCode: 31153
DisorderType: Clinical group
Children: Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Apolipoprotein A-I deficiency
OrphaCode: 425
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Hypobetalipoproteinemia
OrphaCode: 31154
DisorderType: Clinical group
Children: Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Chylomicron retention disease
OrphaCode: 71
DisorderType: Disease
Name: Rare syndromic dyslipidemia
OrphaCode: 181437
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Sitosterolemia
OrphaCode: 2882
DisorderType: Disease
Name: Lysosomal acid lipase deficiency
OrphaCode: 275761
DisorderType: Disease
Children: Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Disorder of lipid absorption and transport
OrphaCode: 309028
DisorderType: Category
Children: Name: Pancreatic triacylglycerol lipase deficiency
OrphaCode: 309031
DisorderType: Disease
Name: Pancreatic colipase deficiency
OrphaCode: 309108
DisorderType: Disease
Name: Combined pancreatic lipase-colipase deficiency
OrphaCode: 309111
DisorderType: Disease
Name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
OrphaCode: 352301
DisorderType: Category
Children: Name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
OrphaCode: 352306
DisorderType: Category
Children: Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 39
OrphaCode: 139480
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
OrphaCode: 431361
DisorderType: Disease
Name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
OrphaCode: 352309
DisorderType: Category
Children: Name: Hereditary sensory and autonomic neuropathy type 1
OrphaCode: 36386
DisorderType: Disease
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
OrphaCode: 352312
DisorderType: Category
Children: Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Neutral lipid storage disease
OrphaCode: 165
DisorderType: Clinical group
Children: Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Neutral lipid storage disease with myopathy
OrphaCode: 98908
DisorderType: Disease
Name: Primary triglyceride deposit cardiomyovasculopathy
OrphaCode: 565612
DisorderType: Disease
Name: Genetic recurrent myoglobinuria
OrphaCode: 99845
DisorderType: Disease
Name: Megaconial congenital muscular dystrophy
OrphaCode: 280671
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Disorder of lysosomal-related organelles
OrphaCode: 309340
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
OrphaCode: 675782
DisorderType: Disease
Name: Disorder of porphyrin and heme metabolism
OrphaCode: 309813
DisorderType: Category
Children: Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: X-linked sideroblastic anemia
OrphaCode: 75563
DisorderType: Disease
Name: Disorder of bilirubin metabolism and excretion
OrphaCode: 309816
DisorderType: Category
Children: Name: Crigler-Najjar syndrome
OrphaCode: 205
DisorderType: Disease
Children: Name: Crigler-Najjar syndrome type 1
OrphaCode: 79234
DisorderType: Clinical subtype
Name: Crigler-Najjar syndrome type 2
OrphaCode: 79235
DisorderType: Clinical subtype
Name: Dubin-Johnson syndrome
OrphaCode: 234
DisorderType: Disease
Name: Rotor syndrome
OrphaCode: 3111
DisorderType: Disease
Name: Progressive familial intrahepatic cholestasis
OrphaCode: 172
DisorderType: Disease
Children: Name: Progressive familial intrahepatic cholestasis type 2
OrphaCode: 79304
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 3
OrphaCode: 79305
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 1
OrphaCode: 79306
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 4
OrphaCode: 480483
DisorderType: Clinical subtype
Name: MYO5B-related progressive familial intrahepatic cholestasis
OrphaCode: 480491
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 5
OrphaCode: 480476
DisorderType: Clinical subtype
Name: Hereditary North American Indian childhood cirrhosis
OrphaCode: 168583
DisorderType: Clinical subtype
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Benign recurrent intrahepatic cholestasis
OrphaCode: 65682
DisorderType: Disease
Children: Name: Benign recurrent intrahepatic cholestasis type 1
OrphaCode: 99960
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis type 2
OrphaCode: 99961
DisorderType: Clinical subtype
Name: Heme oxygenase-1 deficiency
OrphaCode: 562509
DisorderType: Disease
Name: Disorder of metabolite absorption and transport
OrphaCode: 309824
DisorderType: Category
Children: Name: Disorder of vitamin and non-protein cofactor absorption and transport
OrphaCode: 309827
DisorderType: Category
Children: Name: Disorder of cobalamin metabolism and transport
OrphaCode: 79171
DisorderType: Category
Children: Name: Methylmalonic acidemia with homocystinuria
OrphaCode: 26
DisorderType: Disease
Children: Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblD
OrphaCode: 79283
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria type cblF
OrphaCode: 79284
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblJ
OrphaCode: 369955
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblX
OrphaCode: 369962
DisorderType: Clinical subtype
Name: Transcobalamin deficiency
OrphaCode: 859
DisorderType: Disease
Name: Vitamin B12-responsive methylmalonic acidemia
OrphaCode: 28
DisorderType: Disease
Children: Name: Vitamin B12-responsive methylmalonic acidemia type cblA
OrphaCode: 79310
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblB
OrphaCode: 79311
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
OrphaCode: 308442
DisorderType: Clinical subtype
Name: Transcobalamin I deficiency
OrphaCode: 2967
DisorderType: Disease
Name: Congenital intrinsic factor deficiency
OrphaCode: 332
DisorderType: Disease
Name: Homocystinuria without methylmalonic aciduria
OrphaCode: 622
DisorderType: Disease
Children: Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblG
OrphaCode: 2170
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblDv1
OrphaCode: 308380
DisorderType: Clinical subtype
Name: Imerslund-Gräsbeck syndrome
OrphaCode: 35858
DisorderType: Disease
Name: Methylmalonic aciduria due to transcobalamin receptor defect
OrphaCode: 280183
DisorderType: Biological anomaly
Name: Disorder of folate metabolism and transport
OrphaCode: 285657
DisorderType: Category
Children: Name: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
OrphaCode: 658813
DisorderType: Disease
Name: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
OrphaCode: 661412
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OrphaCode: 395
DisorderType: Disease
Name: Formiminoglutamic aciduria
OrphaCode: 51208
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: Constitutional megaloblastic anemia with severe neurologic disease
OrphaCode: 319651
DisorderType: Disease
Name: Disorder of thiamine metabolism and transport
OrphaCode: 298644
DisorderType: Category
Children: Name: Progressive polyneuropathy with bilateral striatal necrosis
OrphaCode: 217396
DisorderType: Disease
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Biotin-thiamine-responsive basal ganglia disease
OrphaCode: 65284
DisorderType: Disease
Name: Thiamine-responsive encephalopathy
OrphaCode: 199348
DisorderType: Disease
Name: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
OrphaCode: 263410
DisorderType: Disease
Name: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
OrphaCode: 293955
DisorderType: Disease
Name: Amish lethal microcephaly
OrphaCode: 99742
DisorderType: Malformation syndrome
Name: Disorder of other vitamins and cofactors metabolism and transport
OrphaCode: 309833
DisorderType: Category
Children: Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Hereditary combined deficiency of vitamin K-dependent clotting factors
OrphaCode: 98434
DisorderType: Disease
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Hereditary hypercarotenemia and vitamin A deficiency
OrphaCode: 199285
DisorderType: Disease
Name: Progressive retinal dystrophy due to retinol transport defect
OrphaCode: 352718
DisorderType: Disease
Name: Maternal riboflavin deficiency
OrphaCode: 411712
DisorderType: Disease
Name: Disorder of mineral absorption and transport
OrphaCode: 309836
DisorderType: Category
Children: Name: Disorder of copper metabolism
OrphaCode: 309839
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Familial benign copper deficiency
OrphaCode: 1551
DisorderType: Disease
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
OrphaCode: 521411
DisorderType: Disease
Name: Disorder of iron metabolism and transport
OrphaCode: 309842
DisorderType: Category
Children: Name: Neonatal hemochromatosis
OrphaCode: 446
DisorderType: Disease
Name: Congenital atransferrinemia
OrphaCode: 1195
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Microcytic anemia with liver iron overload
OrphaCode: 83642
DisorderType: Disease
Name: Dietary iron overload disease
OrphaCode: 139507
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Rare hereditary hemochromatosis
OrphaCode: 220489
DisorderType: Category
Children: Name: Symptomatic form of HFE-related hemochromatosis
OrphaCode: 465508
DisorderType: Disease
Name: Non-HFE-related hemochromatosis
OrphaCode: 648569
DisorderType: Clinical group
Children: Name: TFR2-related hemochromatosis
OrphaCode: 225123
DisorderType: Disease
Name: SLC40A1-related hemochromatosis
OrphaCode: 647834
DisorderType: Disease
Name: HJV or HAMP-related hemochromatosis
OrphaCode: 79230
DisorderType: Disease
Name: Digenic hemochromatosis
OrphaCode: 648581
DisorderType: Disease
Name: FTH1-related iron overload
OrphaCode: 247790
DisorderType: Disease
Name: L-ferritin deficiency
OrphaCode: 440731
DisorderType: Biological anomaly
Name: Hereditary hyperferritinemia-cataract syndrome
OrphaCode: 163
DisorderType: Disease
Name: Ferroportin disease
OrphaCode: 648562
DisorderType: Disease
Name: Disorder of zinc metabolism and transport
OrphaCode: 309845
DisorderType: Category
Children: Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Disorder of magnesium transport
OrphaCode: 309848
DisorderType: Category
Children: Name: Primary hypomagnesemia with secondary hypocalcemia
OrphaCode: 30924
DisorderType: Disease
Name: Autosomal dominant primary hypomagnesemia with hypocalciuria
OrphaCode: 34528
DisorderType: Disease
Name: Isolated autosomal dominant hypomagnesemia, Glaudemans type
OrphaCode: 199326
DisorderType: Disease
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: EGF-related primary hypomagnesemia with intellectual disability
OrphaCode: 620368
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
OrphaCode: 306516
DisorderType: Disease
Children: Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
OrphaCode: 31043
DisorderType: Clinical subtype
Name: Disorder of manganese transport
OrphaCode: 309851
DisorderType: Category
Children: Name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
OrphaCode: 309854
DisorderType: Disease
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Dystonia-parkinsonism-hypermanganesemia syndrome
OrphaCode: 521406
DisorderType: Disease
Name: Rare genetic neurological disorder
OrphaCode: 71859
DisorderType: Category
Children: Name: Genetic neurological channelopathy of the central nervous system
OrphaCode: 98743
DisorderType: Category
Children: Name: Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
OrphaCode: 98744
DisorderType: Category
Children: Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Malignant migrating focal seizures of infancy
OrphaCode: 293181
DisorderType: Disease
Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
OrphaCode: 98745
DisorderType: Category
Children: Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Familial paroxysmal ataxia
OrphaCode: 97
DisorderType: Disease
Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
OrphaCode: 98746
DisorderType: Category
Children: Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Intellectual disability, Birk-Barel type
OrphaCode: 166108
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: Paroxysmal kinesigenic dyskinesia
OrphaCode: 98809
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: KCNQ2-related epileptic encephalopathy
OrphaCode: 439218
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Benign familial neonatal epilepsy
OrphaCode: 1949
DisorderType: Disease
Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Episodic ataxia type 1
OrphaCode: 37612
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
OrphaCode: 98747
DisorderType: Category
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
OrphaCode: 98748
DisorderType: Category
Children: Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
OrphaCode: 98749
DisorderType: Category
Children: Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
OrphaCode: 538238
DisorderType: Category
Children: Name: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
OrphaCode: 363540
DisorderType: Disease
Name: CLCN4-related X-linked intellectual disability syndrome
OrphaCode: 485350
DisorderType: Disease
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Leukodystrophy
OrphaCode: 68356
DisorderType: Category
Children: Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Dermatoleukodystrophy
OrphaCode: 1659
DisorderType: Disease
Name: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 495844
DisorderType: Disease
Name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 466934
DisorderType: Disease
Name: Alexander disease
OrphaCode: 58
DisorderType: Disease
Children: Name: Alexander disease type I
OrphaCode: 363717
DisorderType: Clinical subtype
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: CACH syndrome
OrphaCode: 135
DisorderType: Disease
Children: Name: Ovarioleukodystrophy
OrphaCode: 99853
DisorderType: Clinical subtype
Name: Cree leukoencephalopathy
OrphaCode: 99854
DisorderType: Clinical subtype
Name: Congenital or early infantile CACH syndrome
OrphaCode: 157713
DisorderType: Clinical subtype
Name: Late infantile CACH syndrome
OrphaCode: 157716
DisorderType: Clinical subtype
Name: Juvenile or adult CACH syndrome
OrphaCode: 157719
DisorderType: Clinical subtype
Name: Megalencephalic leukoencephalopathy with subcortical cysts
OrphaCode: 2478
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Cystic leukoencephalopathy without megalencephaly
OrphaCode: 85136
DisorderType: Disease
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: Ravine syndrome
OrphaCode: 99852
DisorderType: Disease
Name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OrphaCode: 137898
DisorderType: Disease
Name: Hypomyelination with atrophy of basal ganglia and cerebellum
OrphaCode: 139441
DisorderType: Disease
Name: Leukoencephalopathy with bilateral anterior temporal lobe cysts
OrphaCode: 139444
DisorderType: Disease
Name: Progressive cavitating leukoencephalopathy
OrphaCode: 139447
DisorderType: Disease
Name: Leukoencephalopathy-dystonia-motor neuropathy syndrome
OrphaCode: 163684
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Pelizaeus-Merzbacher-like disease
OrphaCode: 280270
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher-like disease due to GJC2 mutation
OrphaCode: 280282
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
OrphaCode: 280288
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
OrphaCode: 280293
DisorderType: Clinical subtype
Name: 4H leukodystrophy
OrphaCode: 289494
DisorderType: Disease
Children: Name: Odontoleukodystrophy
OrphaCode: 77295
DisorderType: Clinical subtype
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
OrphaCode: 137639
DisorderType: Clinical subtype
Name: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
DisorderType: Clinical subtype
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
OrphaCode: 314051
DisorderType: Disease
Name: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
OrphaCode: 363412
DisorderType: Disease
Name: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
OrphaCode: 363540
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
OrphaCode: 431361
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: RARS-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 438114
DisorderType: Disease
Name: Ribose-5-P isomerase deficiency
OrphaCode: 440706
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Adult-onset progressive leukoencephalopathy-early-onset deafness
OrphaCode: 652532
DisorderType: Disease
Name: Alkaline ceramidase 3 deficiency
OrphaCode: 502444
DisorderType: Disease
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: Episodic memory defect leukoencephalopathy
OrphaCode: 662229
DisorderType: Disease
Name: Neurometabolic disease
OrphaCode: 68385
DisorderType: Category
Children: Name: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
OrphaCode: 615964
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Autosomal dominant progressive external ophthalmoplegia
OrphaCode: 254892
DisorderType: Disease
Name: Autosomal recessive progressive external ophthalmoplegia
OrphaCode: 254886
DisorderType: Disease
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Spastic ataxia-dysarthria due to glutaminase deficiency
OrphaCode: 557056
DisorderType: Disease
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: NAD(P)HX dehydratase deficiency
OrphaCode: 555402
DisorderType: Disease
Name: NAD(P)HX epimerase deficiency
OrphaCode: 555407
DisorderType: Disease
Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: Disorder of pterin metabolism
OrphaCode: 309819
DisorderType: Category
Children: Name: Dopa-responsive dystonia
OrphaCode: 255
DisorderType: Clinical group
Children: Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
OrphaCode: 238583
DisorderType: Disease
Children: Name: Dihydropteridine reductase deficiency
OrphaCode: 226
DisorderType: Clinical subtype
Name: 6-pyruvoyl-tetrahydropterin synthase deficiency
OrphaCode: 13
DisorderType: Clinical subtype
Name: GTP cyclohydrolase I deficiency
OrphaCode: 2102
DisorderType: Clinical subtype
Name: Pterin-4 alpha-carbinolamine dehydratase deficiency
OrphaCode: 1578
DisorderType: Clinical subtype
Name: Hyperphenylalaninemia due to DNAJC12 deficiency
OrphaCode: 508523
DisorderType: Disease
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Lipoyl transferase 2 deficiency
OrphaCode: 447795
DisorderType: Biological anomaly
Name: Multiple mitochondrial dysfunctions syndrome
OrphaCode: 289573
DisorderType: Clinical group
Children: Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 3
OrphaCode: 363424
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 1
OrphaCode: 401869
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 2
OrphaCode: 401874
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Phenylketonuria
OrphaCode: 716
DisorderType: Disease
Children: Name: Mild phenylketonuria
OrphaCode: 79253
DisorderType: Clinical subtype
Name: Classic phenylketonuria
OrphaCode: 79254
DisorderType: Clinical subtype
Name: Mild hyperphenylalaninemia
OrphaCode: 79651
DisorderType: Clinical subtype
Name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
OrphaCode: 293284
DisorderType: Clinical subtype
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Monoamine oxidase A deficiency
OrphaCode: 3057
DisorderType: Disease
Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: 2-hydroxyglutaric aciduria
OrphaCode: 19
DisorderType: Clinical group
Children: Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: D-2-hydroxyglutaric aciduria
OrphaCode: 79315
DisorderType: Disease
Name: D,L-2-hydroxyglutaric aciduria
OrphaCode: 356978
DisorderType: Disease
Name: Homocystinuria without methylmalonic aciduria
OrphaCode: 622
DisorderType: Disease
Children: Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblG
OrphaCode: 2170
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblDv1
OrphaCode: 308380
DisorderType: Clinical subtype
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Glutaryl-CoA dehydrogenase deficiency
OrphaCode: 25
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: L-Arginine:glycine amidinotransferase deficiency
OrphaCode: 35704
DisorderType: Disease
Name: Neurometabolic disorder due to serine deficiency
OrphaCode: 35705
DisorderType: Category
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OrphaCode: 447997
DisorderType: Disease
Name: Serine biosynthesis pathway deficiency, infantile/juvenile form
OrphaCode: 583595
DisorderType: Disease
Children: Name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OrphaCode: 79351
DisorderType: Etiological subtype
Name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
OrphaCode: 79350
DisorderType: Etiological subtype
Name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
OrphaCode: 284417
DisorderType: Etiological subtype
Name: Aromatic L-amino acid decarboxylase deficiency
OrphaCode: 35708
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Biotin-thiamine-responsive basal ganglia disease
OrphaCode: 65284
DisorderType: Disease
Name: Beta-ureidopropionase deficiency
OrphaCode: 65287
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Classic glucose transporter type 1 deficiency syndrome
OrphaCode: 71277
DisorderType: Disease
Name: Congenital brain dysgenesis due to glutamine synthetase deficiency
OrphaCode: 71278
DisorderType: Disease
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Folinic acid-responsive seizures
OrphaCode: 79097
DisorderType: Disease
Name: Hyperprolinemia type 2
OrphaCode: 79101
DisorderType: Disease
Name: Hydroxykynureninuria
OrphaCode: 79155
DisorderType: Disease
Name: 2-methylbutyryl-CoA dehydrogenase deficiency
OrphaCode: 79157
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
OrphaCode: 88639
DisorderType: Disease
Name: Aminoacylase 1 deficiency
OrphaCode: 137754
DisorderType: Disease
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: FASTKD2-related infantile mitochondrial encephalomyopathy
OrphaCode: 166105
DisorderType: Disease
Name: Methionine adenosyltransferase I/III deficiency
OrphaCode: 168598
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Urocanic aciduria
OrphaCode: 210128
DisorderType: Disease
Name: Severe X-linked mitochondrial encephalomyopathy
OrphaCode: 238329
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form
OrphaCode: 254803
DisorderType: Clinical group
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Fatal infantile lactic acidosis with methylmalonic aciduria
OrphaCode: 17
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
OrphaCode: 369897
DisorderType: Disease
Name: Mitochondrial DNA-associated Leigh syndrome
OrphaCode: 255210
DisorderType: Disease
Name: Hypermethioninemia encephalopathy due to adenosine kinase deficiency
OrphaCode: 289290
DisorderType: Disease
Name: Congenital cataract-hearing loss-severe developmental delay syndrome
OrphaCode: 300313
DisorderType: Disease
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 11
OrphaCode: 324535
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with neurological involvement
OrphaCode: 371047
DisorderType: Category
Children: Name: COG6-CGD
OrphaCode: 464443
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: ALG12-CDG
OrphaCode: 79324
DisorderType: Disease
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Congenital muscular dystrophy without intellectual disability
OrphaCode: 370980
DisorderType: Disease
Name: Congenital disorder of glycosylation with epilepsy as a major feature
OrphaCode: 371071
DisorderType: Category
Children: Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: COG2-CDG
OrphaCode: 435934
DisorderType: Disease
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: COG5-CDG
OrphaCode: 263487
DisorderType: Disease
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: MAN1B1-CDG
OrphaCode: 397941
DisorderType: Disease
Name: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
OrphaCode: 391348
DisorderType: Disease
Name: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
OrphaCode: 391376
DisorderType: Disease
Name: HSD10 disease
OrphaCode: 391417
DisorderType: Disease
Children: Name: HSD10 disease, atypical type
OrphaCode: 85295
DisorderType: Clinical subtype
Name: HSD10 disease, infantile type
OrphaCode: 391428
DisorderType: Clinical subtype
Name: HSD10 disease, neonatal type
OrphaCode: 391457
DisorderType: Clinical subtype
Name: Combined oxidative phosphorylation defect type 20
OrphaCode: 420728
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 21
OrphaCode: 420733
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
OrphaCode: 431361
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: Mitochondrial pyruvate carrier deficiency
OrphaCode: 447784
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 8
OrphaCode: 505208
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: Combined oxidative phosphorylation defect type 27
OrphaCode: 477774
DisorderType: Disease
Name: Autosomal dominant mitochondrial myopathy with exercise intolerance
OrphaCode: 457050
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Alkaline ceramidase 3 deficiency
OrphaCode: 502444
DisorderType: Disease
Name: Lipoic acid synthetase deficiency
OrphaCode: 401859
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Adenosine monophosphate deaminase deficiency
OrphaCode: 45
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 48
OrphaCode: 306511
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 77
OrphaCode: 466722
DisorderType: Disease
Name: Progressive polyneuropathy with bilateral striatal necrosis
OrphaCode: 217396
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Polyglucosan body myopathy type 2
OrphaCode: 456369
DisorderType: Disease
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Childhood-onset spasticity with hyperglycinemia
OrphaCode: 401866
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 30
OrphaCode: 478042
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Neonatal epileptic encephalopathy due to glutaminase deficiency
OrphaCode: 557064
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 39
OrphaCode: 565624
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: WARS2-related combined oxidative phosphorylation defect
OrphaCode: 572798
DisorderType: Disease
Name: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
OrphaCode: 619979
DisorderType: Disease
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: Paroxysmal extreme pain disorder
OrphaCode: 46348
DisorderType: Disease
Name: Athabaskan brainstem dysgenesis syndrome
OrphaCode: 69739
DisorderType: Disease
Name: Genetic peripheral neuropathy
OrphaCode: 98497
DisorderType: Category
Children: Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
OrphaCode: 166
DisorderType: Category
Children: Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: Digital extensor muscle aplasia-polyneuropathy
OrphaCode: 2926
DisorderType: Malformation syndrome
Name: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
OrphaCode: 431320
DisorderType: Clinical group
Children: Name: Spastic paraplegia-optic atrophy-neuropathy syndrome
OrphaCode: 320406
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 57
OrphaCode: 431329
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 74
OrphaCode: 468661
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Axonal hereditary motor and sensory neuropathy
OrphaCode: 476109
DisorderType: Clinical group
Children: Name: Autosomal recessive axonal hereditary motor and sensory neuropathy
OrphaCode: 91024
DisorderType: Clinical group
Children: Name: Autosomal recessive Charcot-Marie-Tooth disease type 2X
OrphaCode: 466775
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B2
OrphaCode: 101101
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2H
OrphaCode: 101102
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B5
OrphaCode: 228374
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2P
OrphaCode: 300319
DisorderType: Disease
Name: Autosomal recessive axonal neuropathy with neuromyotonia
OrphaCode: 324442
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2R
OrphaCode: 397968
DisorderType: Disease
Name: Microcephaly-complex motor and sensory axonal neuropathy syndrome
OrphaCode: 423894
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2S
OrphaCode: 443073
DisorderType: Disease
Name: DNAJB2-related Charcot-Marie-Tooth disease type 2
OrphaCode: 443950
DisorderType: Disease
Name: Severe early-onset axonal neuropathy due to MFN2 deficiency
OrphaCode: 90118
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy with acrodystrophy
OrphaCode: 90119
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B1
OrphaCode: 98856
DisorderType: Disease
Name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
OrphaCode: 101097
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 6
OrphaCode: 90120
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2T
OrphaCode: 495274
DisorderType: Disease
Name: Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
OrphaCode: 538096
DisorderType: Disease
Name: Congenital axonal neuropathy with encephalopathy
OrphaCode: 538101
DisorderType: Disease
Name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
OrphaCode: 521411
DisorderType: Disease
Name: Autosomal dominant hereditary axonal motor and sensory neuropathy
OrphaCode: 140456
DisorderType: Category
Children: Name: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
OrphaCode: 538574
DisorderType: Disease
Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2
OrphaCode: 64746
DisorderType: Clinical group
Children: Name: Autosomal dominant Charcot-Marie-Tooth disease type 2B
OrphaCode: 99936
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2C
OrphaCode: 99937
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2D
OrphaCode: 99938
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2E
OrphaCode: 99939
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2F
OrphaCode: 99940
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2G
OrphaCode: 99941
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2I
OrphaCode: 99942
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2J
OrphaCode: 99943
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2K
OrphaCode: 99944
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2L
OrphaCode: 99945
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A1
OrphaCode: 99946
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OrphaCode: 99947
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2N
OrphaCode: 228174
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2M
OrphaCode: 228179
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2O
OrphaCode: 284232
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2P
OrphaCode: 300319
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
OrphaCode: 324611
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Q
OrphaCode: 329258
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2U
OrphaCode: 397735
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
OrphaCode: 401964
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
OrphaCode: 435387
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
OrphaCode: 435819
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2V
OrphaCode: 447964
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
OrphaCode: 466768
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
OrphaCode: 487814
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2W
OrphaCode: 488333
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2DD
OrphaCode: 521414
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 5
OrphaCode: 64751
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy, Okinawa type
OrphaCode: 90117
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 6
OrphaCode: 90120
DisorderType: Disease
Name: Demyelinating hereditary motor and sensory neuropathy
OrphaCode: 476116
DisorderType: Clinical group
Children: Name: Autosomal dominant hereditary demyelinating motor and sensory neuropathy
OrphaCode: 140453
DisorderType: Category
Children: Name: Hereditary neuropathy with liability to pressure palsies
OrphaCode: 640
DisorderType: Malformation syndrome
Name: Roussy-Lévy syndrome
OrphaCode: 3115
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1
OrphaCode: 65753
DisorderType: Clinical group
Children: Name: Charcot-Marie-Tooth disease type 1E
OrphaCode: 90658
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1A
OrphaCode: 101081
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1B
OrphaCode: 101082
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1C
OrphaCode: 101083
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1D
OrphaCode: 101084
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1F
OrphaCode: 101085
DisorderType: Disease
Name: Hereditary thermosensitive neuropathy
OrphaCode: 84093
DisorderType: Disease
Name: Neuropathy with hearing impairment
OrphaCode: 139512
DisorderType: Disease
Name: Autosomal dominant slowed nerve conduction velocity
OrphaCode: 140481
DisorderType: Disease
Name: Mitchell Syndrome
OrphaCode: 631248
DisorderType: Disease
Name: PMP2-related Charcot-Marie-Tooth disease type 1
OrphaCode: 476394
DisorderType: Disease
Name: Hereditary sensorimotor neuropathy with hyperelastic skin
OrphaCode: 280598
DisorderType: Disease
Name: Dejerine-Sottas syndrome
OrphaCode: 64748
DisorderType: Disease
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Autosomal recessive hereditary demyelinating motor and sensory neuropathy
OrphaCode: 140459
DisorderType: Category
Children: Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease type 4
OrphaCode: 64749
DisorderType: Clinical group
Children: Name: Charcot-Marie-Tooth disease type 4A
OrphaCode: 99948
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4C
OrphaCode: 99949
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4D
OrphaCode: 99950
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4E
OrphaCode: 99951
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4F
OrphaCode: 99952
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4G
OrphaCode: 99953
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4H
OrphaCode: 99954
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B1
OrphaCode: 99955
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B2
OrphaCode: 99956
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4J
OrphaCode: 139515
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B3
OrphaCode: 363981
DisorderType: Disease
Name: SURF1-related Charcot-Marie-Tooth disease type 4
OrphaCode: 391351
DisorderType: Disease
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Dejerine-Sottas syndrome
OrphaCode: 64748
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Intermediate Charcot-Marie-Tooth disease
OrphaCode: 476123
DisorderType: Clinical group
Children: Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease
OrphaCode: 90114
DisorderType: Clinical group
Children: Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
OrphaCode: 93114
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
OrphaCode: 100043
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
OrphaCode: 100044
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
OrphaCode: 100045
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
OrphaCode: 100046
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
OrphaCode: 324585
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
OrphaCode: 352670
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease
OrphaCode: 268337
DisorderType: Clinical group
Children: Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
OrphaCode: 217055
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
OrphaCode: 254334
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
OrphaCode: 369867
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
OrphaCode: 435998
DisorderType: Disease
Name: Giant axonal neuropathy
OrphaCode: 643
DisorderType: Disease
Name: Familial recurrent peripheral facial palsy
OrphaCode: 2809
DisorderType: Disease
Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Distal hereditary motor neuropathy
OrphaCode: 53739
DisorderType: Clinical group
Children: Name: Autosomal dominant distal hereditary motor neuropathy
OrphaCode: 140465
DisorderType: Category
Children: Name: Autosomal dominant congenital benign spinal muscular atrophy
OrphaCode: 1216
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 1
OrphaCode: 139518
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 2
OrphaCode: 139525
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 5
OrphaCode: 139536
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 7
OrphaCode: 139589
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Autosomal recessive distal hereditary motor neuropathy
OrphaCode: 140468
DisorderType: Category
Children: Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 1
OrphaCode: 98920
DisorderType: Disease
Name: Distal spinal muscular atrophy type 3
OrphaCode: 139547
DisorderType: Disease
Name: Distal hereditary motor neuropathy, Jerash type
OrphaCode: 139552
DisorderType: Disease
Name: Young adult-onset distal hereditary motor neuropathy
OrphaCode: 314485
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: X-linked distal hereditary motor neuropathy
OrphaCode: 404538
DisorderType: Category
Children: Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: X-linked distal spinal muscular atrophy type 3
OrphaCode: 139557
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 2
OrphaCode: 404521
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy
OrphaCode: 140471
DisorderType: Clinical group
Children: Name: X-linked hereditary sensory and autonomic neuropathy with deafness
OrphaCode: 139583
DisorderType: Disease
Name: Autosomal dominant hereditary sensory and autonomic neuropathy
OrphaCode: 140474
DisorderType: Category
Children: Name: Hereditary sensory and autonomic neuropathy type 1
OrphaCode: 36386
DisorderType: Disease
Name: Primary erythromelalgia
OrphaCode: 90026
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 1B
OrphaCode: 139564
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 7
OrphaCode: 391397
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Congenital insensitivity to pain syndrome, Marsili type
OrphaCode: 653728
DisorderType: Disease
Name: Autosomal recessive hereditary sensory and autonomic neuropathy
OrphaCode: 140477
DisorderType: Category
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 4
OrphaCode: 642
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 2
OrphaCode: 970
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 5
OrphaCode: 64752
DisorderType: Disease
Name: Congenital insensitivity to pain-anosmia-neuropathic arthropathy
OrphaCode: 88642
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy with deafness and global delay
OrphaCode: 139573
DisorderType: Disease
Name: Mutilating hereditary sensory neuropathy with spastic paraplegia
OrphaCode: 139578
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 6
OrphaCode: 314381
DisorderType: Disease
Name: Cold-induced sweating syndrome-hyperthermia spectrum
OrphaCode: 401993
DisorderType: Clinical group
Children: Name: Crisponi syndrome
OrphaCode: 1545
DisorderType: Malformation syndrome
Name: Cold-induced sweating syndrome
OrphaCode: 157820
DisorderType: Disease
Name: KLHL7-related Crisponi/cold-induced sweating-like syndrome
OrphaCode: 603694
DisorderType: Disease
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Congenital insensitivity to pain syndrome, Marsili type
OrphaCode: 653728
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 8
OrphaCode: 478664
DisorderType: Disease
Name: Congenital insensitivity to pain with severe intellectual disability
OrphaCode: 453510
DisorderType: Disease
Name: Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
OrphaCode: 217399
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Primary CD59 deficiency
OrphaCode: 169464
DisorderType: Disease
Name: Rare hereditary disease with peripheral neuropathy
OrphaCode: 207015
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: Rare hereditary metabolic disease with peripheral neuropathy
OrphaCode: 207018
DisorderType: Category
Children: Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OrphaCode: 395
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Gyrate atrophy of choroid and retina
OrphaCode: 414
DisorderType: Disease
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Mitochondrial disease with peripheral neuropathy
OrphaCode: 225703
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Parkinsonism with polyneuropathy
OrphaCode: 611237
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: Rare hereditary systemic disease with peripheral neuropathy
OrphaCode: 207021
DisorderType: Category
Children: Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: ATTRV30M amyloidosis
OrphaCode: 85447
DisorderType: Clinical subtype
Name: AGel amyloidosis
OrphaCode: 85448
DisorderType: Disease
Name: EMILIN-1-related connective tissue disease
OrphaCode: 485418
DisorderType: Disease
Name: Rare hereditary neurologic disease with peripheral neuropathy
OrphaCode: 207025
DisorderType: Category
Children: Name: Cerebellar ataxia with peripheral neuropathy
OrphaCode: 207028
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Attenuated Chédiak-Higashi syndrome
OrphaCode: 352723
DisorderType: Disease
Name: Congenital trigeminal anesthesia
OrphaCode: 231013
DisorderType: Disease
Name: Hereditary sodium channelopathy-related small fibers neuropathy
OrphaCode: 306577
DisorderType: Disease
Name: Familial episodic pain syndrome
OrphaCode: 391384
DisorderType: Disease
Children: Name: Familial episodic pain syndrome with predominantly upper body involvement
OrphaCode: 391389
DisorderType: Clinical subtype
Name: Familial episodic pain syndrome with predominantly lower limb involvement
OrphaCode: 391392
DisorderType: Clinical subtype
Name: Genetic dementia
OrphaCode: 158124
DisorderType: Category
Children: Name: HTRA1-related cerebral small vessel disease
OrphaCode: 482072
DisorderType: Clinical group
Children: Name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 199354
DisorderType: Disease
Name: HTRA1-related autosomal dominant cerebral small vessel disease
OrphaCode: 482077
DisorderType: Disease
Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Metabolic disease with dementia
OrphaCode: 98543
DisorderType: Category
Children: Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Cerebral lipidosis with dementia
OrphaCode: 98544
DisorderType: Category
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Genetic neurodegenerative disease with dementia
OrphaCode: 276058
DisorderType: Category
Children: Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Early-onset autosomal dominant Alzheimer disease
OrphaCode: 1020
DisorderType: Disease
Name: Ataxia with dementia
OrphaCode: 98538
DisorderType: Category
Children: Name: Early-onset ataxia with dementia
OrphaCode: 98539
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Late-onset ataxia with dementia
OrphaCode: 98540
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Genetic frontotemporal degeneration with dementia
OrphaCode: 276061
DisorderType: Category
Children: Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Frontotemporal dementia
OrphaCode: 282
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
OrphaCode: 412066
DisorderType: Disease
Name: ITM2B amyloidosis
OrphaCode: 439254
DisorderType: Disease
Children: Name: ABri amyloidosis
OrphaCode: 97345
DisorderType: Clinical subtype
Name: ADan amyloidosis
OrphaCode: 97346
DisorderType: Clinical subtype
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Inherited human prion disease
OrphaCode: 280400
DisorderType: Category
Children: Name: Fatal familial insomnia
OrphaCode: 466
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: Gerstmann-Straussler-Scheinker syndrome
OrphaCode: 356
DisorderType: Disease
Name: Familial Alzheimer-like prion disease
OrphaCode: 280397
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Rare cerebrovascular dementia
OrphaCode: 98549
DisorderType: Category
Children: Name: Cerebral Amyloid Angiopathy
OrphaCode: 85458
DisorderType: Disease
Children: Name: ABeta amyloidosis, Dutch type
OrphaCode: 100006
DisorderType: Clinical subtype
Name: ACys amyloidosis
OrphaCode: 100008
DisorderType: Clinical subtype
Name: ABetaL34V amyloidosis
OrphaCode: 324703
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Iowa type
OrphaCode: 324708
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Italian type
OrphaCode: 324713
DisorderType: Clinical subtype
Name: ABetaA21G amyloidosis
OrphaCode: 324718
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Arctic type
OrphaCode: 324723
DisorderType: Clinical subtype
Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
OrphaCode: 575553
DisorderType: Disease
Name: Familial advanced sleep-phase syndrome
OrphaCode: 164736
DisorderType: Disease
Name: Rare pervasive developmental disorder
OrphaCode: 168778
DisorderType: Category
Children: Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Childhood disintegrative disorder
OrphaCode: 168782
DisorderType: Disease
Name: Rare disease with autism
OrphaCode: 180772
DisorderType: Category
Children: Name: Timothy syndrome
OrphaCode: 65283
DisorderType: Malformation syndrome
Children: Name: Timothy syndrome type 1
OrphaCode: 595098
DisorderType: Clinical subtype
Name: Timothy syndrome type 2
OrphaCode: 595105
DisorderType: Clinical subtype
Name: Atypical Timothy syndrome
OrphaCode: 595109
DisorderType: Clinical subtype
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: Xq12-q13.3 duplication syndrome
OrphaCode: 314389
DisorderType: Malformation syndrome
Name: Developmental delay with autism spectrum disorder and gait instability
OrphaCode: 329195
DisorderType: Disease
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
OrphaCode: 589547
DisorderType: Disease
Name: Atypical autism
OrphaCode: 199627
DisorderType: Disease
Name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
OrphaCode: 600663
DisorderType: Malformation syndrome
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Brain calcification, Rajab type
OrphaCode: 178506
DisorderType: Disease
Name: Genetic neuromuscular disease
OrphaCode: 183497
DisorderType: Category
Children: Name: Genetic neuromuscular junction disease
OrphaCode: 98495
DisorderType: Category
Children: Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Genetic motor neuron disease
OrphaCode: 98505
DisorderType: Category
Children: Name: Distal hereditary motor neuropathy
OrphaCode: 53739
DisorderType: Clinical group
Children: Name: Autosomal dominant distal hereditary motor neuropathy
OrphaCode: 140465
DisorderType: Category
Children: Name: Autosomal dominant congenital benign spinal muscular atrophy
OrphaCode: 1216
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 1
OrphaCode: 139518
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 2
OrphaCode: 139525
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 5
OrphaCode: 139536
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 7
OrphaCode: 139589
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Autosomal recessive distal hereditary motor neuropathy
OrphaCode: 140468
DisorderType: Category
Children: Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 1
OrphaCode: 98920
DisorderType: Disease
Name: Distal spinal muscular atrophy type 3
OrphaCode: 139547
DisorderType: Disease
Name: Distal hereditary motor neuropathy, Jerash type
OrphaCode: 139552
DisorderType: Disease
Name: Young adult-onset distal hereditary motor neuropathy
OrphaCode: 314485
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: X-linked distal hereditary motor neuropathy
OrphaCode: 404538
DisorderType: Category
Children: Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: X-linked distal spinal muscular atrophy type 3
OrphaCode: 139557
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 2
OrphaCode: 404521
DisorderType: Disease
Name: Neurogenic scapuloperoneal syndrome, Kaeser type
OrphaCode: 85146
DisorderType: Disease
Name: Madras motor neuron disease
OrphaCode: 137867
DisorderType: Disease
Name: Bulbospinal muscular atrophy
OrphaCode: 206701
DisorderType: Category
Children: Name: Bulbospinal muscular atrophy of childhood
OrphaCode: 206704
DisorderType: Clinical group
Children: Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Bulbospinal muscular atrophy of adult
OrphaCode: 206707
DisorderType: Clinical group
Children: Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: Generalized bulbospinal muscular atrophy
OrphaCode: 206710
DisorderType: Clinical group
Children: Name: Spinal atrophy-ophthalmoplegia-pyramidal syndrome
OrphaCode: 1217
DisorderType: Disease
Name: Autosomal recessive lower motor neuron disease with childhood onset
OrphaCode: 206580
DisorderType: Disease
Name: Spinal muscular atrophy associated with central nervous system anomaly
OrphaCode: 207012
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
OrphaCode: 73245
DisorderType: Malformation syndrome
Name: Autosomal dominant proximal spinal muscular atrophy
OrphaCode: 211037
DisorderType: Clinical group
Children: Name: Autosomal dominant adult-onset proximal spinal muscular atrophy
OrphaCode: 209335
DisorderType: Disease
Name: Lower motor neuron syndrome with late-adult onset
OrphaCode: 276435
DisorderType: Disease
Name: Autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 363447
DisorderType: Disease
Children: Name: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 209341
DisorderType: Etiological subtype
Name: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 363454
DisorderType: Etiological subtype
Name: Juvenile primary lateral sclerosis
OrphaCode: 247604
DisorderType: Disease
Name: Infantile-onset ascending hereditary spastic paralysis
OrphaCode: 293168
DisorderType: Disease
Name: Juvenile amyotrophic lateral sclerosis
OrphaCode: 300605
DisorderType: Disease
Name: Amyotrophic lateral sclerosis type 4
OrphaCode: 357043
DisorderType: Disease
Name: Scapuloperoneal spinal muscular atrophy
OrphaCode: 431255
DisorderType: Disease
Name: Proximal spinal muscular atrophy
OrphaCode: 70
DisorderType: Disease
Children: Name: Proximal spinal muscular atrophy type 1
OrphaCode: 83330
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 2
OrphaCode: 83418
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 3
OrphaCode: 83419
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 4
OrphaCode: 83420
DisorderType: Clinical subtype
Name: Prenatal-onset spinal muscular atrophy with congenital bone fractures
OrphaCode: 486811
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Genetic skeletal muscle disease
OrphaCode: 206634
DisorderType: Category
Children: Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Tel Hashomer camptodactyly syndrome
OrphaCode: 3292
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Distal myopathy
OrphaCode: 599
DisorderType: Category
Children: Name: Autosomal dominant distal myopathy
OrphaCode: 206650
DisorderType: Category
Children: Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Distal myopathy, Welander type
OrphaCode: 603
DisorderType: Disease
Name: Tibial muscular dystrophy
OrphaCode: 609
DisorderType: Disease
Name: Vocal cord and pharyngeal distal myopathy
OrphaCode: 600
DisorderType: Disease
Name: Laing early-onset distal myopathy
OrphaCode: 59135
DisorderType: Disease
Name: Distal myopathy with posterior leg and anterior hand involvement
OrphaCode: 63273
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Distal myotilinopathy
OrphaCode: 98911
DisorderType: Disease
Name: Late-onset distal myopathy, Markesbery-Griggs type
OrphaCode: 98912
DisorderType: Disease
Name: Adult-onset distal myopathy due to VCP mutation
OrphaCode: 329478
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: KLHL9-related early-onset distal myopathy
OrphaCode: 399081
DisorderType: Disease
Name: Finnish upper limb-onset distal myopathy
OrphaCode: 399086
DisorderType: Disease
Name: Distal myopathy, Tateyama type
OrphaCode: 488650
DisorderType: Disease
Name: Autosomal recessive distal myopathy
OrphaCode: 206653
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: Miyoshi myopathy
OrphaCode: 45448
DisorderType: Disease
Name: Distal myopathy with anterior tibial onset
OrphaCode: 178400
DisorderType: Disease
Name: Distal anoctaminopathy
OrphaCode: 399096
DisorderType: Disease
Name: Distal nebulin myopathy
OrphaCode: 399103
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Adenylosuccinate synthetase-like 1-related distal myopathy
OrphaCode: 482601
DisorderType: Disease
Name: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
OrphaCode: 88635
DisorderType: Disease
Name: Muscular dystrophy
OrphaCode: 98473
DisorderType: Category
Children: Name: Congenital muscular dystrophy
OrphaCode: 97242
DisorderType: Category
Children: Name: Laminin subunit alpha 2-related congenital muscular dystrophy
OrphaCode: 258
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OrphaCode: 1875
DisorderType: Disease
Name: Congenital muscular dystrophy with integrin alpha-7 deficiency
OrphaCode: 34520
DisorderType: Disease
Name: Rigid spine syndrome
OrphaCode: 97244
DisorderType: Disease
Name: Congenital muscular dystrophy type 1B
OrphaCode: 98893
DisorderType: Disease
Name: Congenital muscular dystrophy due to LMNA mutation
OrphaCode: 157973
DisorderType: Disease
Name: Congenital myopathy, Paradas type
OrphaCode: 199329
DisorderType: Disease
Name: Megaconial congenital muscular dystrophy
OrphaCode: 280671
DisorderType: Disease
Name: Autosomal recessive myogenic arthrogryposis multiplex congenita
OrphaCode: 319332
DisorderType: Disease
Name: Congenital muscular dystrophy due to dystroglycanopathy
OrphaCode: 370953
DisorderType: Category
Children: Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: Congenital muscular dystrophy without intellectual disability
OrphaCode: 370980
DisorderType: Disease
Name: Congenital muscular dystrophy with hyperlaxity
OrphaCode: 371007
DisorderType: Disease
Name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
OrphaCode: 486815
DisorderType: Disease
Name: Collagen VI-related congenital muscular dystrophy
OrphaCode: 646098
DisorderType: Clinical group
Children: Name: Bethlem muscular dystrophy
OrphaCode: 610
DisorderType: Disease
Name: Ullrich congenital muscular dystrophy
OrphaCode: 75840
DisorderType: Disease
Name: Intermediate collagen VI-related muscular dystrophy
OrphaCode: 646113
DisorderType: Disease
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Progressive muscular dystrophy
OrphaCode: 206644
DisorderType: Category
Children: Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Duchenne and Becker muscular dystrophy
OrphaCode: 262
DisorderType: Clinical group
Children: Name: Becker muscular dystrophy
OrphaCode: 98895
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
OrphaCode: 206546
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Facioscapulohumeral dystrophy
OrphaCode: 269
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Bethlem muscular dystrophy
OrphaCode: 610
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Limb-girdle muscular dystrophy
OrphaCode: 263
DisorderType: Clinical group
Children: Name: Autosomal dominant limb-girdle muscular dystrophy
OrphaCode: 102014
DisorderType: Category
Children: Name: Calpain-3-related limb-girdle muscular dystrophy D4
OrphaCode: 565909
DisorderType: Disease
Name: DNAJB6-related limb-girdle muscular dystrophy D1
OrphaCode: 34516
DisorderType: Disease
Name: TNP03-related limb-girdle muscular dystrophy D2
OrphaCode: 55595
DisorderType: Disease
Name: HNRNPDL-related limb-girdle muscular dystrophy D3
OrphaCode: 55596
DisorderType: Disease
Name: Autosomal recessive limb-girdle muscular dystrophy
OrphaCode: 102015
DisorderType: Category
Children: Name: Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
OrphaCode: 565837
DisorderType: Disease
Name: POGLUT1-related limb-girdle muscular dystrophy R21
OrphaCode: 480682
DisorderType: Disease
Name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
OrphaCode: 62
DisorderType: Disease
Name: Calpain-3-related limb-girdle muscular dystrophy R1
OrphaCode: 267
DisorderType: Disease
Name: TRIM32-related limb-girdle muscular dystrophy R8
OrphaCode: 1878
DisorderType: Disease
Name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OrphaCode: 119
DisorderType: Disease
Name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
OrphaCode: 353
DisorderType: Disease
Name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
OrphaCode: 219
DisorderType: Disease
Name: Dysferlin-related limb-girdle muscular dystrophy R2
OrphaCode: 268
DisorderType: Disease
Name: Telethonin-related limb-girdle muscular dystrophy R7
OrphaCode: 34514
DisorderType: Disease
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: Titin-related limb-girdle muscular dystrophy R10
OrphaCode: 140922
DisorderType: Disease
Name: Anoctamin-5-related limb-girdle muscular dystrophy R12
OrphaCode: 206549
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: Plectin-related limb-girdle muscular dystrophy R17
OrphaCode: 254361
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: TRAPPC11-related limb-girdle muscular dystrophy R18
OrphaCode: 369840
DisorderType: Disease
Name: TOR1AIP1-related limb-girdle muscular dystrophy
OrphaCode: 424261
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: BVES-related limb-girdle muscular dystrophy
OrphaCode: 476084
DisorderType: Disease
Name: Autosomal recessive limb-girdle muscular dystrophy, type 28
OrphaCode: 653725
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: X-linked myopathy with excessive autophagy
OrphaCode: 25980
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: X-linked myopathy with postural muscle atrophy
OrphaCode: 178461
DisorderType: Disease
Name: Hereditary myopathy with early respiratory failure
OrphaCode: 178464
DisorderType: Disease
Name: Myotonic dystrophy
OrphaCode: 206647
DisorderType: Clinical group
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
OrphaCode: 431263
DisorderType: Clinical group
Children: Name: X-linked scapuloperoneal muscular dystrophy
OrphaCode: 431272
DisorderType: Disease
Name: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
OrphaCode: 466921
DisorderType: Disease
Name: Progressive scapulohumeroperoneal distal myopathy
OrphaCode: 447977
DisorderType: Disease
Name: Non-dystrophic myopathy
OrphaCode: 206656
DisorderType: Category
Children: Name: Proximal myopathy with focal depletion of mitochondria
OrphaCode: 521305
DisorderType: Disease
Name: Myofibrillar myopathy
OrphaCode: 593
DisorderType: Category
Children: Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Alpha-crystallinopathy
OrphaCode: 98910
DisorderType: Clinical group
Children: Name: Fatal infantile hypertonic myofibrillar myopathy
OrphaCode: 280553
DisorderType: Disease
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: Myotilinopathy
OrphaCode: 209224
DisorderType: Category
Children: Name: Autosomal dominant limb-girdle muscular dystrophy type 1A
OrphaCode: 266
DisorderType: Disease
Name: Distal myotilinopathy
OrphaCode: 98911
DisorderType: Disease
Name: Spheroid body myopathy
OrphaCode: 268129
DisorderType: Disease
Name: Late-onset distal myopathy, Markesbery-Griggs type
OrphaCode: 98912
DisorderType: Disease
Name: Muscle filaminopathy
OrphaCode: 171445
DisorderType: Disease
Name: Muscular dystrophy, Selcen type
OrphaCode: 199340
DisorderType: Disease
Name: Hypercontractile muscle stiffness syndrome
OrphaCode: 476403
DisorderType: Clinical group
Children: Name: Congenital generalized hypercontractile muscle stiffness syndrome
OrphaCode: 476406
DisorderType: Disease
Name: Fatal infantile hypertonic myofibrillar myopathy
OrphaCode: 280553
DisorderType: Disease
Name: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
OrphaCode: 496686
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Hereditary continuous muscle fiber activity
OrphaCode: 972
DisorderType: Disease
Name: Brody myopathy
OrphaCode: 53347
DisorderType: Disease
Name: Rippling muscle disease
OrphaCode: 97238
DisorderType: Disease
Name: Congenital myopathy
OrphaCode: 97245
DisorderType: Category
Children: Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Congenital fiber-type disproportion myopathy
OrphaCode: 2020
DisorderType: Disease
Name: Tubular aggregate myopathy
OrphaCode: 2593
DisorderType: Disease
Name: Intellectual disability-myopathy-short stature-endocrine defect syndrome
OrphaCode: 3068
DisorderType: Disease
Name: Centronuclear myopathy
OrphaCode: 595
DisorderType: Clinical group
Children: Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Autosomal recessive centronuclear myopathy
OrphaCode: 169186
DisorderType: Disease
Name: Autosomal dominant centronuclear myopathy
OrphaCode: 169189
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: Symptomatic form of X-linked centronuclear myopathy in female carriers
OrphaCode: 604680
DisorderType: Disease
Name: Congenital myopathy with internal nuclei and atypical cores
OrphaCode: 319160
DisorderType: Disease
Name: Myosin storage myopathy
OrphaCode: 53698
DisorderType: Disease
Children: Name: Autosomal dominant myosin storage myopathy
OrphaCode: 636965
DisorderType: Clinical subtype
Name: Autosomal recessive myosin storage myopathy
OrphaCode: 636970
DisorderType: Clinical subtype
Name: Fingerprint body myopathy
OrphaCode: 97232
DisorderType: Disease
Name: Reducing body myopathy
OrphaCode: 97239
DisorderType: Disease
Name: Zebra body myopathy
OrphaCode: 97240
DisorderType: Disease
Name: Congenital myopathy with excess of thin filaments
OrphaCode: 98904
DisorderType: Disease
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Cap myopathy
OrphaCode: 171881
DisorderType: Disease
Name: Cylindrical spirals myopathy
OrphaCode: 171886
DisorderType: Disease
Name: Myopathy with hexagonally cross-linked tubular arrays
OrphaCode: 171889
DisorderType: Disease
Name: Congenital myopathy with cores
OrphaCode: 172976
DisorderType: Clinical group
Children: Name: Central core disease
OrphaCode: 597
DisorderType: Disease
Name: Multiminicore myopathy
OrphaCode: 598
DisorderType: Disease
Children: Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Antenatal multiminicore disease with arthrogryposis multiplex congenita
OrphaCode: 178148
DisorderType: Clinical subtype
Name: Classic multiminicore myopathy
OrphaCode: 324604
DisorderType: Clinical subtype
Name: Congenital myopathy with internal nuclei and atypical cores
OrphaCode: 319160
DisorderType: Disease
Name: Congenital lethal myopathy, Compton-North type
OrphaCode: 210163
DisorderType: Disease
Name: Benign Samaritan congenital myopathy
OrphaCode: 324581
DisorderType: Disease
Name: Fetal akinesia-cerebral and retinal hemorrhage syndrome
OrphaCode: 363409
DisorderType: Disease
Name: Congenital myopathy with myasthenic-like onset
OrphaCode: 424107
DisorderType: Disease
Name: Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
OrphaCode: 439212
DisorderType: Disease
Name: Congenital myopathy with reduced type 2 muscle fibers
OrphaCode: 544602
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: Congenital nemaline myopathy
OrphaCode: 457074
DisorderType: Clinical group
Children: Name: Amish nemaline myopathy
OrphaCode: 98902
DisorderType: Disease
Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Metabolic myopathy
OrphaCode: 98486
DisorderType: Category
Children: Name: Mitochondrial myopathy
OrphaCode: 206966
DisorderType: Category
Children: Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Adenosine monophosphate deaminase deficiency
OrphaCode: 45
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Isolated succinate-CoQ reductase deficiency
OrphaCode: 3208
DisorderType: Disease
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
OrphaCode: 329314
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: DNA2-related mitochondrial DNA deletion syndrome
OrphaCode: 352470
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Autosomal dominant mitochondrial myopathy with exercise intolerance
OrphaCode: 457050
DisorderType: Disease
Name: Hereditary myopathy with lactic acidosis due to ISCU deficiency
OrphaCode: 43115
DisorderType: Disease
Name: Metabolic myopathy due to lactate transporter defect
OrphaCode: 171690
DisorderType: Disease
Name: Muscular lipidosis
OrphaCode: 206953
DisorderType: Category
Children: Name: Carnitine palmitoyltransferase II deficiency
OrphaCode: 157
DisorderType: Disease
Children: Name: Carnitine palmitoyl transferase II deficiency, myopathic form
OrphaCode: 228302
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, severe infantile form
OrphaCode: 228305
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, neonatal form
OrphaCode: 228308
DisorderType: Clinical subtype
Name: Neutral lipid storage disease
OrphaCode: 165
DisorderType: Clinical group
Children: Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Neutral lipid storage disease with myopathy
OrphaCode: 98908
DisorderType: Disease
Name: Primary triglyceride deposit cardiomyovasculopathy
OrphaCode: 565612
DisorderType: Disease
Name: Systemic primary carnitine deficiency
OrphaCode: 158
DisorderType: Disease
Name: Myopathy and diabetes mellitus
OrphaCode: 2596
DisorderType: Disease
Name: Multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 26791
DisorderType: Disease
Children: Name: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
OrphaCode: 394529
DisorderType: Clinical subtype
Name: Multiple acyl-CoA dehydrogenase deficiency, mild type
OrphaCode: 394532
DisorderType: Clinical subtype
Name: Short chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26792
DisorderType: Disease
Name: Very long chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26793
DisorderType: Disease
Name: Genetic recurrent myoglobinuria
OrphaCode: 99845
DisorderType: Disease
Name: Autosomal dominant myoglobinuria
OrphaCode: 99846
DisorderType: Disease
Name: Muscular glycogenosis
OrphaCode: 206959
DisorderType: Clinical group
Children: Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
OrphaCode: 368
DisorderType: Disease
Name: Glycogen storage disease due to muscle phosphofructokinase deficiency
OrphaCode: 371
DisorderType: Disease
Name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
OrphaCode: 715
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OrphaCode: 79240
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate mutase deficiency
OrphaCode: 97234
DisorderType: Disease
Name: Glycogen storage disease due to muscle beta-enolase deficiency
OrphaCode: 99849
DisorderType: Disease
Name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
OrphaCode: 263297
DisorderType: Disease
Name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
OrphaCode: 284426
DisorderType: Clinical subtype
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Polyglucosan body myopathy type 2
OrphaCode: 456369
DisorderType: Disease
Name: Inclusion myopathy
OrphaCode: 206662
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: X-linked myopathy with excessive autophagy
OrphaCode: 25980
DisorderType: Disease
Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
OrphaCode: 79091
DisorderType: Disease
Name: Desmin-related myopathy with Mallory body-like inclusions
OrphaCode: 84132
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Hereditary myopathy with early respiratory failure
OrphaCode: 178464
DisorderType: Disease
Name: Hereditary inclusion body myopathy type 4
OrphaCode: 324381
DisorderType: Disease
Name: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
OrphaCode: 363677
DisorderType: Disease
Name: Early-onset myopathy with fatal cardiomyopathy
OrphaCode: 289377
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Nemaline myopathy
OrphaCode: 607
DisorderType: Clinical group
Children: Name: Amish nemaline myopathy
OrphaCode: 98902
DisorderType: Disease
Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Childhood-onset nemaline myopathy
OrphaCode: 171439
DisorderType: Disease
Name: Adult-onset nemaline myopathy
OrphaCode: 171442
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Myosclerosis
OrphaCode: 289380
DisorderType: Disease
Name: Myotonic syndrome
OrphaCode: 206970
DisorderType: Category
Children: Name: Paramyotonia congenita of Von Eulenburg
OrphaCode: 684
DisorderType: Disease
Name: Potassium-aggravated myotonia
OrphaCode: 612
DisorderType: Clinical group
Children: Name: Myotonia fluctuans
OrphaCode: 99734
DisorderType: Disease
Name: Myotonia permanens
OrphaCode: 99735
DisorderType: Disease
Name: Acetazolamide-responsive myotonia
OrphaCode: 99736
DisorderType: Disease
Name: Myotonic dystrophy
OrphaCode: 206647
DisorderType: Clinical group
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Congenital myotonia
OrphaCode: 206973
DisorderType: Clinical group
Children: Name: Thomsen and Becker disease
OrphaCode: 614
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Genetic periodic paralysis
OrphaCode: 371433
DisorderType: Category
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Hyperkalemic periodic paralysis
OrphaCode: 682
DisorderType: Disease
Name: Andersen-Tawil syndrome
OrphaCode: 37553
DisorderType: Disease
Name: Periodic paralysis with later-onset distal motor neuropathy
OrphaCode: 397750
DisorderType: Disease
Name: Periodic paralysis with transient compartment-like syndrome
OrphaCode: 397755
DisorderType: Disease
Name: Qualitative or quantitative protein defects in neuromuscular diseases
OrphaCode: 207049
DisorderType: Category
Children: Name: Qualitative or quantitative defects of sarcoglycan
OrphaCode: 207052
DisorderType: Category
Children: Name: Qualitative or quantitative defects of alpha-sarcoglycan
OrphaCode: 207060
DisorderType: Category
Children: Name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
OrphaCode: 62
DisorderType: Disease
Name: Qualitative or quantitative defects of beta-sarcoglycan
OrphaCode: 207063
DisorderType: Category
Children: Name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OrphaCode: 119
DisorderType: Disease
Name: Qualitative or quantitative defects of gamma-sarcoglycan
OrphaCode: 207067
DisorderType: Category
Children: Name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
OrphaCode: 353
DisorderType: Disease
Name: Qualitative or quantitative defects of delta-sarcoglycan
OrphaCode: 207070
DisorderType: Category
Children: Name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
OrphaCode: 219
DisorderType: Disease
Name: Qualitative or quantitative defects of dysferlin
OrphaCode: 207073
DisorderType: Category
Children: Name: Dysferlin-related limb-girdle muscular dystrophy R2
OrphaCode: 268
DisorderType: Disease
Name: Miyoshi myopathy
OrphaCode: 45448
DisorderType: Disease
Name: Distal myopathy with anterior tibial onset
OrphaCode: 178400
DisorderType: Disease
Name: Congenital myopathy, Paradas type
OrphaCode: 199329
DisorderType: Disease
Name: Qualitative or quantitative defects of caveolin-3
OrphaCode: 207078
DisorderType: Category
Children: Name: Rippling muscle disease
OrphaCode: 97238
DisorderType: Disease
Name: Isolated asymptomatic elevation of creatine phosphokinase
OrphaCode: 206599
DisorderType: Biological anomaly
Name: Distal myopathy, Tateyama type
OrphaCode: 488650
DisorderType: Disease
Name: Qualitative or quantitative defects of dystrophin
OrphaCode: 207085
DisorderType: Category
Children: Name: Familial isolated dilated cardiomyopathy
OrphaCode: 154
DisorderType: Disease
Name: Becker muscular dystrophy
OrphaCode: 98895
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
OrphaCode: 206546
DisorderType: Disease
Name: Isolated asymptomatic elevation of creatine phosphokinase
OrphaCode: 206599
DisorderType: Biological anomaly
Name: Qualitative or quantitative defects of collagen 6
OrphaCode: 207090
DisorderType: Category
Children: Name: Collagen VI-related congenital muscular dystrophy
OrphaCode: 646098
DisorderType: Clinical group
Children: Name: Bethlem muscular dystrophy
OrphaCode: 610
DisorderType: Disease
Name: Ullrich congenital muscular dystrophy
OrphaCode: 75840
DisorderType: Disease
Name: Intermediate collagen VI-related muscular dystrophy
OrphaCode: 646113
DisorderType: Disease
Name: Myosclerosis
OrphaCode: 289380
DisorderType: Disease
Name: Laminin subunit alpha 2-related muscular dystrophy
OrphaCode: 207094
DisorderType: Category
Children: Name: Laminin subunit alpha 2-related congenital muscular dystrophy
OrphaCode: 258
DisorderType: Malformation syndrome
Name: Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
OrphaCode: 565837
DisorderType: Disease
Name: Qualitative or quantitative defects of integrin alpha-7
OrphaCode: 207098
DisorderType: Category
Children: Name: Congenital muscular dystrophy with integrin alpha-7 deficiency
OrphaCode: 34520
DisorderType: Disease
Name: Qualitative or quantitative defects of perlecan
OrphaCode: 207101
DisorderType: Category
Children: Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Qualitative or quantitative defects of calpain
OrphaCode: 207104
DisorderType: Category
Children: Name: Calpain-3-related limb-girdle muscular dystrophy D4
OrphaCode: 565909
DisorderType: Disease
Name: Calpain-3-related limb-girdle muscular dystrophy R1
OrphaCode: 267
DisorderType: Disease
Name: Qualitative or quantitative defects of TRIM32
OrphaCode: 207107
DisorderType: Category
Children: Name: TRIM32-related limb-girdle muscular dystrophy R8
OrphaCode: 1878
DisorderType: Disease
Name: Qualitative or quantitative defects of myotubularin
OrphaCode: 207110
DisorderType: Category
Children: Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: Symptomatic form of X-linked centronuclear myopathy in female carriers
OrphaCode: 604680
DisorderType: Disease
Name: Qualitative or quantitative defects of myofibrillar proteins
OrphaCode: 209038
DisorderType: Category
Children: Name: Qualitative or quantitative defects of desmin
OrphaCode: 209041
DisorderType: Category
Children: Name: Desmin-related myopathy with Mallory body-like inclusions
OrphaCode: 84132
DisorderType: Disease
Name: Neurogenic scapuloperoneal syndrome, Kaeser type
OrphaCode: 85146
DisorderType: Disease
Name: Rigid spine syndrome
OrphaCode: 97244
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Qualitative or quantitative defects of alphaB-cristallin
OrphaCode: 209044
DisorderType: Category
Children: Name: Alpha-crystallinopathy
OrphaCode: 98910
DisorderType: Clinical group
Children: Name: Fatal infantile hypertonic myofibrillar myopathy
OrphaCode: 280553
DisorderType: Disease
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: Qualitative or quantitative defects of filamin C
OrphaCode: 209047
DisorderType: Category
Children: Name: Muscle filaminopathy
OrphaCode: 171445
DisorderType: Disease
Name: Qualitative or quantitative defects of protein ZASP
OrphaCode: 209050
DisorderType: Category
Children: Name: Late-onset distal myopathy, Markesbery-Griggs type
OrphaCode: 98912
DisorderType: Disease
Name: Qualitative or quantitative defects of titin
OrphaCode: 209053
DisorderType: Category
Children: Name: Tibial muscular dystrophy
OrphaCode: 609
DisorderType: Disease
Name: Titin-related limb-girdle muscular dystrophy R10
OrphaCode: 140922
DisorderType: Disease
Name: Autosomal recessive centronuclear myopathy
OrphaCode: 169186
DisorderType: Disease
Name: Hereditary myopathy with early respiratory failure
OrphaCode: 178464
DisorderType: Disease
Name: Early-onset myopathy with fatal cardiomyopathy
OrphaCode: 289377
DisorderType: Disease
Name: Qualitative or quantitative defects of telethonin
OrphaCode: 209056
DisorderType: Category
Children: Name: Telethonin-related limb-girdle muscular dystrophy R7
OrphaCode: 34514
DisorderType: Disease
Name: Qualitative or quantitative defects of alpha-actin
OrphaCode: 209059
DisorderType: Category
Children: Name: Congenital fiber-type disproportion myopathy
OrphaCode: 2020
DisorderType: Disease
Name: Congenital myopathy with excess of thin filaments
OrphaCode: 98904
DisorderType: Disease
Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Childhood-onset nemaline myopathy
OrphaCode: 171439
DisorderType: Disease
Name: Adult-onset nemaline myopathy
OrphaCode: 171442
DisorderType: Disease
Name: Qualitative or quantitative defects of nebulin
OrphaCode: 209182
DisorderType: Category
Children: Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Childhood-onset nemaline myopathy
OrphaCode: 171439
DisorderType: Disease
Name: Adult-onset nemaline myopathy
OrphaCode: 171442
DisorderType: Disease
Name: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
OrphaCode: 209185
DisorderType: Category
Children: Name: Myosin storage myopathy
OrphaCode: 53698
DisorderType: Disease
Children: Name: Autosomal dominant myosin storage myopathy
OrphaCode: 636965
DisorderType: Clinical subtype
Name: Autosomal recessive myosin storage myopathy
OrphaCode: 636970
DisorderType: Clinical subtype
Name: Laing early-onset distal myopathy
OrphaCode: 59135
DisorderType: Disease
Name: Qualitative or quantitative defects of emerin
OrphaCode: 209188
DisorderType: Category
Children: Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Qualitative or quantitative defects of selenoprotein N1
OrphaCode: 209193
DisorderType: Category
Children: Name: Congenital fiber-type disproportion myopathy
OrphaCode: 2020
DisorderType: Disease
Name: Multiminicore myopathy
OrphaCode: 598
DisorderType: Disease
Children: Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Antenatal multiminicore disease with arthrogryposis multiplex congenita
OrphaCode: 178148
DisorderType: Clinical subtype
Name: Classic multiminicore myopathy
OrphaCode: 324604
DisorderType: Clinical subtype
Name: Desmin-related myopathy with Mallory body-like inclusions
OrphaCode: 84132
DisorderType: Disease
Name: Rigid spine syndrome
OrphaCode: 97244
DisorderType: Disease
Name: Qualitative or quantitative defects of plectin
OrphaCode: 209196
DisorderType: Category
Children: Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Plectin-related limb-girdle muscular dystrophy R17
OrphaCode: 254361
DisorderType: Disease
Name: Qualitative or quantitative defects of protein SERCA1
OrphaCode: 209199
DisorderType: Category
Children: Name: Brody myopathy
OrphaCode: 53347
DisorderType: Disease
Name: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
OrphaCode: 88635
DisorderType: Disease
Name: Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
OrphaCode: 209203
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: Myotilinopathy
OrphaCode: 209224
DisorderType: Category
Children: Name: Autosomal dominant limb-girdle muscular dystrophy type 1A
OrphaCode: 266
DisorderType: Disease
Name: Distal myotilinopathy
OrphaCode: 98911
DisorderType: Disease
Name: Spheroid body myopathy
OrphaCode: 268129
DisorderType: Disease
Name: Qualitative or quantitative defects of troponin
OrphaCode: 284786
DisorderType: Category
Children: Name: Amish nemaline myopathy
OrphaCode: 98902
DisorderType: Disease
Name: Qualitative or quantitative defects of tropomyosin
OrphaCode: 284790
DisorderType: Category
Children: Name: Congenital fiber-type disproportion myopathy
OrphaCode: 2020
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Childhood-onset nemaline myopathy
OrphaCode: 171439
DisorderType: Disease
Name: Cap myopathy
OrphaCode: 171881
DisorderType: Disease
Name: Congenital generalized hypercontractile muscle stiffness syndrome
OrphaCode: 476406
DisorderType: Disease
Name: Qualitative or quantitative defects of alpha-dystroglycan
OrphaCode: 371024
DisorderType: Category
Children: Name: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
OrphaCode: 207113
DisorderType: Category
Children: Name: Qualitative or quantitative defects of FKRP
OrphaCode: 207119
DisorderType: Category
Children: Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: Qualitative or quantitative defects of fukutin
OrphaCode: 207122
DisorderType: Category
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Anoctamin-5-related limb-girdle muscular dystrophy R12
OrphaCode: 206549
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
OrphaCode: 209024
DisorderType: Category
Children: Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: Qualitative or quantitative defects of protein glycosyltransferase-like
OrphaCode: 209027
DisorderType: Category
Name: Qualitative or quantitative defects of protein O-mannosyltransferase 1
OrphaCode: 209030
DisorderType: Category
Children: Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: Qualitative or quantitative defects of protein O-mannosyltransferase 2
OrphaCode: 209033
DisorderType: Category
Children: Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: Primary qualitative or quantitative defects of alpha-dystroglycan
OrphaCode: 371040
DisorderType: Category
Children: Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Qualitative or quantitative defects of Torsin-1A-interacting protein 1
OrphaCode: 424925
DisorderType: Category
Children: Name: TOR1AIP1-related limb-girdle muscular dystrophy
OrphaCode: 424261
DisorderType: Disease
Name: Genetic neurological muscular channelopathy
OrphaCode: 98737
DisorderType: Category
Children: Name: Neurological muscular channelopathy due to a genetic sodium channel defect
OrphaCode: 98738
DisorderType: Category
Children: Name: Paramyotonia congenita of Von Eulenburg
OrphaCode: 684
DisorderType: Disease
Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Hyperkalemic periodic paralysis
OrphaCode: 682
DisorderType: Disease
Name: Potassium-aggravated myotonia
OrphaCode: 612
DisorderType: Clinical group
Children: Name: Myotonia fluctuans
OrphaCode: 99734
DisorderType: Disease
Name: Myotonia permanens
OrphaCode: 99735
DisorderType: Disease
Name: Acetazolamide-responsive myotonia
OrphaCode: 99736
DisorderType: Disease
Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Sheldon-Hall syndrome
OrphaCode: 1147
DisorderType: Malformation syndrome
Name: Neurological muscular channelopathy due to a genetic chloride channel defect
OrphaCode: 98739
DisorderType: Category
Children: Name: Thomsen and Becker disease
OrphaCode: 614
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic calcium channel defect
OrphaCode: 98740
DisorderType: Category
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Periodic paralysis with transient compartment-like syndrome
OrphaCode: 397755
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic potassium channel defect
OrphaCode: 98741
DisorderType: Category
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Andersen-Tawil syndrome
OrphaCode: 37553
DisorderType: Disease
Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: Hereditary continuous muscle fiber activity
OrphaCode: 972
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic ryanodine receptor defect
OrphaCode: 98742
DisorderType: Category
Children: Name: Central core disease
OrphaCode: 597
DisorderType: Disease
Name: Malignant hyperthermia of anesthesia
OrphaCode: 423
DisorderType: Disease
Name: Autosomal recessive centronuclear myopathy
OrphaCode: 169186
DisorderType: Disease
Name: Benign Samaritan congenital myopathy
OrphaCode: 324581
DisorderType: Disease
Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Congenital myopathy with myasthenic-like onset
OrphaCode: 424107
DisorderType: Disease
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Genetic neurodegenerative disease
OrphaCode: 183500
DisorderType: Category
Children: Name: Combined oxidative phosphorylation defect type 29
OrphaCode: 478029
DisorderType: Disease
Name: Alexander disease
OrphaCode: 58
DisorderType: Disease
Children: Name: Alexander disease type I
OrphaCode: 363717
DisorderType: Clinical subtype
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Hereditary spastic paraplegia
OrphaCode: 685
DisorderType: Clinical group
Children: Name: Pure hereditary spastic paraplegia
OrphaCode: 102012
DisorderType: Clinical group
Children: Name: Autosomal dominant pure spastic paraplegia
OrphaCode: 100980
DisorderType: Clinical group
Children: Name: Autosomal dominant spastic paraplegia type 12
OrphaCode: 100993
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 19
OrphaCode: 100999
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 37
OrphaCode: 171612
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 42
OrphaCode: 171863
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 41
OrphaCode: 320355
DisorderType: Disease
Name: Autosomal spastic paraplegia type 72
OrphaCode: 401849
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 73
OrphaCode: 444099
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 80
OrphaCode: 631068
DisorderType: Disease
Name: Autosomal recessive pure spastic paraplegia
OrphaCode: 100982
DisorderType: Clinical group
Children: Name: Autosomal recessive spastic paraplegia type 24
OrphaCode: 101004
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 28
OrphaCode: 101008
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 62
OrphaCode: 401785
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 71
OrphaCode: 401840
DisorderType: Disease
Name: Autosomal spastic paraplegia type 72
OrphaCode: 401849
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 83
OrphaCode: 631076
DisorderType: Disease
Name: X-linked pure spastic paraplegia
OrphaCode: 320332
DisorderType: Clinical group
Children: Name: X-linked spastic paraplegia type 34
OrphaCode: 171607
DisorderType: Disease
Name: Complex hereditary spastic paraplegia
OrphaCode: 102013
DisorderType: Clinical group
Children: Name: X-linked complex spastic paraplegia
OrphaCode: 98888
DisorderType: Clinical group
Children: Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: Autosomal dominant complex spastic paraplegia
OrphaCode: 100979
DisorderType: Clinical group
Children: Name: Autosomal dominant spastic paraplegia type 9A
OrphaCode: 447753
DisorderType: Disease
Name: Spastic paraplegia-facial-cutaneous lesions syndrome
OrphaCode: 2819
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Spastic paraplegia-neuropathy-poikiloderma syndrome
OrphaCode: 2821
DisorderType: Disease
Name: Spastic paraplegia-precocious puberty syndrome
OrphaCode: 2826
DisorderType: Disease
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 29
OrphaCode: 101009
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 38
OrphaCode: 171617
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 36
OrphaCode: 320365
DisorderType: Disease
Name: Spastic paraplegia-Paget disease of bone syndrome
OrphaCode: 329475
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Autosomal recessive complex spastic paraplegia
OrphaCode: 100981
DisorderType: Clinical group
Children: Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
OrphaCode: 477673
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 75
OrphaCode: 459056
DisorderType: Disease
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 15
OrphaCode: 100996
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 20
OrphaCode: 101000
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 23
OrphaCode: 101003
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 25
OrphaCode: 101005
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 26
OrphaCode: 101006
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 39
OrphaCode: 139480
DisorderType: Disease
Name: Mutilating hereditary sensory neuropathy with spastic paraplegia
OrphaCode: 139578
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 32
OrphaCode: 171622
DisorderType: Disease
Name: Severe intellectual disability and progressive spastic paraplegia
OrphaCode: 280763
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 53
OrphaCode: 319199
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 43
OrphaCode: 320370
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 54
OrphaCode: 320380
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 46
OrphaCode: 320391
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 44
OrphaCode: 320401
DisorderType: Disease
Name: Autosomal spastic paraplegia type 58
OrphaCode: 397946
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 61
OrphaCode: 401780
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 59
OrphaCode: 401795
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 60
OrphaCode: 401800
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 63
OrphaCode: 401805
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 64
OrphaCode: 401810
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 66
OrphaCode: 401815
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 67
OrphaCode: 401820
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 69
OrphaCode: 401830
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 70
OrphaCode: 401835
DisorderType: Disease
Name: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
OrphaCode: 431320
DisorderType: Clinical group
Children: Name: Spastic paraplegia-optic atrophy-neuropathy syndrome
OrphaCode: 320406
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 57
OrphaCode: 431329
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 74
OrphaCode: 468661
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 9B
OrphaCode: 447760
DisorderType: Disease
Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 21
OrphaCode: 101001
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 35
OrphaCode: 171629
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
OrphaCode: 496689
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 76
OrphaCode: 488594
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 82
OrphaCode: 631073
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 84
OrphaCode: 631079
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 78
OrphaCode: 513436
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 85
OrphaCode: 631082
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 86
OrphaCode: 631085
DisorderType: Disease
Name: MT-ATP6-related mitochondrial spastic paraplegia
OrphaCode: 320360
DisorderType: Disease
Name: Pure or complex hereditary spastic paraplegia
OrphaCode: 320335
DisorderType: Clinical group
Children: Name: Pure or complex autosomal dominant spastic paraplegia
OrphaCode: 320342
DisorderType: Clinical group
Children: Name: Autosomal spastic paraplegia type 30
OrphaCode: 101010
DisorderType: Disease
Name: Autosomal spastic paraplegia type 18
OrphaCode: 209951
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 3
OrphaCode: 100984
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 4
OrphaCode: 100985
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 6
OrphaCode: 100988
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 10
OrphaCode: 100991
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 13
OrphaCode: 100994
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 31
OrphaCode: 101011
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 9B
OrphaCode: 447757
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 8
OrphaCode: 100989
DisorderType: Disease
Name: Pure or complex autosomal recessive spastic paraplegia
OrphaCode: 320346
DisorderType: Clinical group
Children: Name: Autosomal recessive spastic paraplegia type 87
OrphaCode: 631088
DisorderType: Disease
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: Autosomal recessive spastic paraplegia type 11
OrphaCode: 2822
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 5A
OrphaCode: 100986
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 14
OrphaCode: 100995
DisorderType: Disease
Name: Autosomal spastic paraplegia type 30
OrphaCode: 101010
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 45
OrphaCode: 320396
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 48
OrphaCode: 306511
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 56
OrphaCode: 320411
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 77
OrphaCode: 466722
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 27
OrphaCode: 101007
DisorderType: Disease
Name: Pure or complex X-linked spastic paraplegia
OrphaCode: 320350
DisorderType: Clinical group
Children: Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: X-linked spastic paraplegia type 16
OrphaCode: 100997
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Neuronal intranuclear inclusion disease
OrphaCode: 2289
DisorderType: Disease
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Primary lateral sclerosis
OrphaCode: 35689
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Posterior cortical atrophy
OrphaCode: 54247
DisorderType: Disease
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Facial onset sensory and motor neuronopathy
OrphaCode: 85162
DisorderType: Disease
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Bertini type
OrphaCode: 85334
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Hamel type
OrphaCode: 85336
DisorderType: Disease
Name: Huntington disease-like syndrome
OrphaCode: 158266
DisorderType: Clinical group
Children: Name: Childhood-onset benign chorea with striatal involvement
OrphaCode: 494541
DisorderType: Disease
Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Benign hereditary chorea
OrphaCode: 1429
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Huntington disease-like 3
OrphaCode: 157946
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: Genetic neurodegenerative disease with dementia
OrphaCode: 276058
DisorderType: Category
Children: Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Early-onset autosomal dominant Alzheimer disease
OrphaCode: 1020
DisorderType: Disease
Name: Ataxia with dementia
OrphaCode: 98538
DisorderType: Category
Children: Name: Early-onset ataxia with dementia
OrphaCode: 98539
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Late-onset ataxia with dementia
OrphaCode: 98540
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Genetic frontotemporal degeneration with dementia
OrphaCode: 276061
DisorderType: Category
Children: Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Frontotemporal dementia
OrphaCode: 282
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
OrphaCode: 412066
DisorderType: Disease
Name: ITM2B amyloidosis
OrphaCode: 439254
DisorderType: Disease
Children: Name: ABri amyloidosis
OrphaCode: 97345
DisorderType: Clinical subtype
Name: ADan amyloidosis
OrphaCode: 97346
DisorderType: Clinical subtype
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Inherited human prion disease
OrphaCode: 280400
DisorderType: Category
Children: Name: Fatal familial insomnia
OrphaCode: 466
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: Gerstmann-Straussler-Scheinker syndrome
OrphaCode: 356
DisorderType: Disease
Name: Familial Alzheimer-like prion disease
OrphaCode: 280397
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
OrphaCode: 352654
DisorderType: Disease
Name: Attenuated Chédiak-Higashi syndrome
OrphaCode: 352723
DisorderType: Disease
Name: Amyotrophic lateral sclerosis type 4
OrphaCode: 357043
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Autosomal recessive cerebral atrophy
OrphaCode: 363969
DisorderType: Disease
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Fatal post-viral neurodegenerative disorder
OrphaCode: 391343
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: Childhood-onset basal ganglia degeneration syndrome
OrphaCode: 497906
DisorderType: Disease
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: NAD(P)HX dehydratase deficiency
OrphaCode: 555402
DisorderType: Disease
Name: NAD(P)HX epimerase deficiency
OrphaCode: 555407
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: Genetic central nervous system and retinal vascular disease
OrphaCode: 183503
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Familial cervical artery dissection
OrphaCode: 36382
DisorderType: Disease
Name: Rare disorder with a moyamoya angiopathy
OrphaCode: 477771
DisorderType: Category
Children: Name: Moyamoya disease with early-onset achalasia
OrphaCode: 401945
DisorderType: Disease
Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Genetic cerebral small vessel disease
OrphaCode: 477754
DisorderType: Category
Children: Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
OrphaCode: 247691
DisorderType: Disease
Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Coats plus syndrome
OrphaCode: 313838
DisorderType: Disease
Name: Leukoencephalopathy with calcifications and cysts
OrphaCode: 542310
DisorderType: Disease
Name: COL4A1 or COL4A2-related cerebral small vessel disease
OrphaCode: 477759
DisorderType: Category
Children: Name: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
OrphaCode: 477765
DisorderType: Clinical group
Children: Name: COL4A1/2-related familial vascular leukoencephalopathy
OrphaCode: 36383
DisorderType: Disease
Name: HANAC syndrome
OrphaCode: 73229
DisorderType: Disease
Name: Familial isolated retinal arteriolar tortuosity
OrphaCode: 75326
DisorderType: Disease
Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
OrphaCode: 477762
DisorderType: Clinical group
Children: Name: Pontine autosomal dominant microangiopathy with leukoencephalopathy
OrphaCode: 477749
DisorderType: Disease
Name: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
OrphaCode: 314572
DisorderType: Disease
Name: Cerebral Amyloid Angiopathy
OrphaCode: 85458
DisorderType: Disease
Children: Name: ABeta amyloidosis, Dutch type
OrphaCode: 100006
DisorderType: Clinical subtype
Name: ACys amyloidosis
OrphaCode: 100008
DisorderType: Clinical subtype
Name: ABetaL34V amyloidosis
OrphaCode: 324703
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Iowa type
OrphaCode: 324708
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Italian type
OrphaCode: 324713
DisorderType: Clinical subtype
Name: ABetaA21G amyloidosis
OrphaCode: 324718
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Arctic type
OrphaCode: 324723
DisorderType: Clinical subtype
Name: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
OrphaCode: 575553
DisorderType: Disease
Name: HTRA1-related cerebral small vessel disease
OrphaCode: 482072
DisorderType: Clinical group
Children: Name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 199354
DisorderType: Disease
Name: HTRA1-related autosomal dominant cerebral small vessel disease
OrphaCode: 482077
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Primary angiitis of the central nervous system
OrphaCode: 140989
DisorderType: Disease
Name: Genetic neurovascular malformation
OrphaCode: 371436
DisorderType: Category
Children: Name: Familial cerebral saccular aneurysm
OrphaCode: 231160
DisorderType: Disease
Name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
OrphaCode: 521445
DisorderType: Malformation syndrome
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Cerebral arteriovenous malformation
OrphaCode: 46724
DisorderType: Morphological anomaly
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Glomuvenous malformation
OrphaCode: 83454
DisorderType: Malformation syndrome
Name: Familial cerebral cavernous malformation
OrphaCode: 221061
DisorderType: Malformation syndrome
Name: Vein of Galen aneurysmal malformation
OrphaCode: 1053
DisorderType: Morphological anomaly
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Genetic central nervous system malformation
OrphaCode: 183506
DisorderType: Category
Children: Name: Genetic non-syndromic central nervous system malformation
OrphaCode: 269550
DisorderType: Category
Children: Name: Congenital hydrocephalus
OrphaCode: 2185
DisorderType: Malformation syndrome
Children: Name: Congenital communicating hydrocephalus
OrphaCode: 269505
DisorderType: Clinical subtype
Name: Congenital non-communicating hydrocephalus
OrphaCode: 269510
DisorderType: Clinical subtype
Name: Neural tube defect
OrphaCode: 3388
DisorderType: Category
Children: Name: Neural tube closure defect
OrphaCode: 268357
DisorderType: Category
Children: Name: Spina bifida and other spinal dysraphisms
OrphaCode: 823
DisorderType: Category
Children: Name: Open spinal dysraphism
OrphaCode: 268369
DisorderType: Clinical group
Children: Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Myeloschisis
OrphaCode: 645398
DisorderType: Morphological anomaly
Children: Name: True myeloschisis
OrphaCode: 645401
DisorderType: Clinical subtype
Name: Hemi-myeloschisis
OrphaCode: 645393
DisorderType: Clinical subtype
Name: Spinal dysraphism with a posterior meningocele
OrphaCode: 268744
DisorderType: Clinical group
Children: Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Closed spinal dysraphism
OrphaCode: 645202
DisorderType: Clinical group
Children: Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Dysraphism with stalk
OrphaCode: 645193
DisorderType: Clinical group
Children: Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal dermal sinus
OrphaCode: 645188
DisorderType: Morphological anomaly
Name: Limited dorsal myeloschisis
OrphaCode: 645196
DisorderType: Clinical group
Children: Name: Non-saccular limited dorsal myeloschisis
OrphaCode: 645343
DisorderType: Morphological anomaly
Children: Name: Fibroneural non-saccular limited dorsal myeloschisis
OrphaCode: 645310
DisorderType: Histopathological subtype
Name: Lipomatous non-saccular limited dorsal myeloschisis
OrphaCode: 645300
DisorderType: Histopathological subtype
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Anomaly of the filum
OrphaCode: 645282
DisorderType: Clinical group
Children: Name: Fibrolipomatous filum anomaly
OrphaCode: 645279
DisorderType: Clinical group
Children: Name: Isolated filum lipoma
OrphaCode: 645325
DisorderType: Morphological anomaly
Name: Isolated transitional filum lipoma
OrphaCode: 645322
DisorderType: Morphological anomaly
Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal cord lipoma
OrphaCode: 645276
DisorderType: Clinical group
Children: Name: Intramedullary non-dysraphic spinal cord lipoma
OrphaCode: 645359
DisorderType: Morphological anomaly
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Malformation of the neurenteric canal, spinal cord and column
OrphaCode: 268843
DisorderType: Category
Children: Name: Craniorachischisis
OrphaCode: 63260
DisorderType: Morphological anomaly
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Iniencephaly
OrphaCode: 63259
DisorderType: Morphological anomaly
Children: Name: Open iniencephaly
OrphaCode: 268363
DisorderType: Clinical subtype
Name: Closed iniencephaly
OrphaCode: 268366
DisorderType: Clinical subtype
Name: Cephalocele
OrphaCode: 268817
DisorderType: Clinical group
Children: Name: Isolated encephalocele
OrphaCode: 199647
DisorderType: Morphological anomaly
Children: Name: Parietal encephalocele
OrphaCode: 268826
DisorderType: Clinical subtype
Name: Basal encephalocele
OrphaCode: 268829
DisorderType: Clinical subtype
Name: Frontal encephalocele
OrphaCode: 1931
DisorderType: Clinical subtype
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Occipital encephalocele
OrphaCode: 268823
DisorderType: Clinical subtype
Name: Cranial meningocele
OrphaCode: 268820
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Lateral meningocele syndrome
OrphaCode: 2789
DisorderType: Malformation syndrome
Name: Primary syringomyelia
OrphaCode: 99856
DisorderType: Morphological anomaly
Children: Name: Idiopathic syringomyelia
OrphaCode: 99858
DisorderType: Clinical subtype
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Primary tethered cord syndrome
OrphaCode: 268861
DisorderType: Morphological anomaly
Name: Neurenteric cyst
OrphaCode: 268865
DisorderType: Morphological anomaly
Name: Isolated amyelia
OrphaCode: 268868
DisorderType: Morphological anomaly
Name: Arnold-Chiari malformation type I
OrphaCode: 268882
DisorderType: Morphological anomaly
Name: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
OrphaCode: 397927
DisorderType: Malformation syndrome
Name: Arachnoid cyst
OrphaCode: 2356
DisorderType: Morphological anomaly
Name: Cranial nerve and nuclear aplasia
OrphaCode: 98518
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Congenital achiasma
OrphaCode: 324353
DisorderType: Morphological anomaly
Name: Genetic cerebral malformation
OrphaCode: 269553
DisorderType: Category
Children: Name: Midline cerebral malformation
OrphaCode: 268926
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Aprosencephaly cerebellar dysgenesis
OrphaCode: 1126
DisorderType: Malformation syndrome
Name: Duplication of the pituitary gland
OrphaCode: 314621
DisorderType: Morphological anomaly
Name: Microform holoprosencephaly
OrphaCode: 280200
DisorderType: Malformation syndrome
Name: Encephaloclastic disorder
OrphaCode: 269190
DisorderType: Clinical group
Children: Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Hydranencephaly
OrphaCode: 2177
DisorderType: Malformation syndrome
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Diencephalic-mesencephalic junction dysplasia
OrphaCode: 319192
DisorderType: Morphological anomaly
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Isolated congenital microcephaly
OrphaCode: 199642
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Isolated megalencephaly
OrphaCode: 268920
DisorderType: Clinical subtype
Name: Genetic posterior fossa malformation
OrphaCode: 269557
DisorderType: Category
Children: Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Genetic cerebellar malformation
OrphaCode: 269560
DisorderType: Category
Children: Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Hydrocephaly-cerebellar agenesis syndrome
OrphaCode: 1397
DisorderType: Malformation syndrome
Name: Isolated Dandy-Walker malformation
OrphaCode: 217
DisorderType: Morphological anomaly
Children: Name: Isolated Dandy-Walker malformation with hydrocephalus
OrphaCode: 269212
DisorderType: Clinical subtype
Name: Isolated Dandy-Walker malformation without hydrocephalus
OrphaCode: 269215
DisorderType: Clinical subtype
Name: Dermoid or epidermoid cyst of the central nervous system
OrphaCode: 530033
DisorderType: Morphological anomaly
Name: Genetic syndrome with a central nervous system malformation as a major feature
OrphaCode: 269564
DisorderType: Category
Children: Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Fowler vasculopathy
OrphaCode: 221126
DisorderType: Malformation syndrome
Name: Progressive cerebello-cerebral atrophy
OrphaCode: 247198
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Syndrome with microcephaly as a major feature
OrphaCode: 269528
DisorderType: Category
Children: Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Amish lethal microcephaly
OrphaCode: 99742
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OrphaCode: 402364
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Genetic syndrome with a cerebellar malformation as a major feature
OrphaCode: 269567
DisorderType: Category
Children: Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Genetic syndrome with a Dandy-Walker malformation as a major feature
OrphaCode: 269570
DisorderType: Category
Children: Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
OrphaCode: 269573
DisorderType: Category
Children: Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Porencephaly-microcephaly-bilateral congenital cataract syndrome
OrphaCode: 306547
DisorderType: Malformation syndrome
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Hydrocephaly-low insertion umbilicus syndrome
OrphaCode: 2184
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: Rare genetic headache
OrphaCode: 183509
DisorderType: Category
Children: Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Rare genetic epilepsy
OrphaCode: 183512
DisorderType: Category
Children: Name: Metabolic diseases with epilepsy
OrphaCode: 166481
DisorderType: Category
Children: Name: Lysosomal disease with epilepsy
OrphaCode: 225681
DisorderType: Category
Children: Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Sphingolipidosis with epilepsy
OrphaCode: 371442
DisorderType: Category
Children: Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Gangliosidosis
OrphaCode: 309144
DisorderType: Category
Children: Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Peroxisomal disease with epilepsy
OrphaCode: 225686
DisorderType: Category
Children: Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Amino acid or protein metabolism disease with epilepsy
OrphaCode: 225689
DisorderType: Category
Children: Name: 2-methylbutyryl-CoA dehydrogenase deficiency
OrphaCode: 79157
DisorderType: Disease
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Phenylketonuria
OrphaCode: 716
DisorderType: Disease
Children: Name: Mild phenylketonuria
OrphaCode: 79253
DisorderType: Clinical subtype
Name: Classic phenylketonuria
OrphaCode: 79254
DisorderType: Clinical subtype
Name: Mild hyperphenylalaninemia
OrphaCode: 79651
DisorderType: Clinical subtype
Name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
OrphaCode: 293284
DisorderType: Clinical subtype
Name: Hyperprolinemia type 2
OrphaCode: 79101
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
OrphaCode: 308410
DisorderType: Disease
Name: Hyper-beta-alaninemia
OrphaCode: 309147
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: 2-hydroxyglutaric aciduria
OrphaCode: 19
DisorderType: Clinical group
Children: Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: D-2-hydroxyglutaric aciduria
OrphaCode: 79315
DisorderType: Disease
Name: D,L-2-hydroxyglutaric aciduria
OrphaCode: 356978
DisorderType: Disease
Name: Neonatal epileptic encephalopathy due to glutaminase deficiency
OrphaCode: 557064
DisorderType: Disease
Name: Metal transport or utilization disorder with epilepsy
OrphaCode: 225692
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Energy metabolism disorder with epilepsy
OrphaCode: 225696
DisorderType: Category
Children: Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Mitochondrial disease with epilepsy
OrphaCode: 225700
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Lipoic acid synthetase deficiency
OrphaCode: 401859
DisorderType: Disease
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Lipoyl transferase 2 deficiency
OrphaCode: 447795
DisorderType: Biological anomaly
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Glutaric acidemia type 3
OrphaCode: 35706
DisorderType: Disease
Name: Creatine deficiency syndrome
OrphaCode: 79172
DisorderType: Clinical group
Children: Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: L-Arginine:glycine amidinotransferase deficiency
OrphaCode: 35704
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Metabolic neurotransmission anomaly with epilepsy
OrphaCode: 225707
DisorderType: Category
Children: Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Beta-ureidopropionase deficiency
OrphaCode: 65287
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Metabolic disease involving other neurotransmitter deficiency
OrphaCode: 79219
DisorderType: Category
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Hereditary butyrylcholinesterase deficiency
OrphaCode: 132
DisorderType: Disease
Name: Folinic acid-responsive seizures
OrphaCode: 79097
DisorderType: Disease
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Sterol metabolism disorder with epilepsy
OrphaCode: 225710
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Other metabolic disease with epilepsy
OrphaCode: 225713
DisorderType: Category
Children: Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OrphaCode: 395
DisorderType: Disease
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Classic glucose transporter type 1 deficiency syndrome
OrphaCode: 71277
DisorderType: Disease
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: Constitutional megaloblastic anemia with severe neurologic disease
OrphaCode: 319651
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Congenital disorder of glycosylation with epilepsy as a major feature
OrphaCode: 371071
DisorderType: Category
Children: Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: Chromosomal anomaly with epilepsy as a major feature
OrphaCode: 166469
DisorderType: Category
Children: Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Ring chromosome 20 syndrome
OrphaCode: 1444
DisorderType: Malformation syndrome
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: Ring chromosome 14 syndrome
OrphaCode: 1440
DisorderType: Malformation syndrome
Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Epilepsy syndrome
OrphaCode: 166463
DisorderType: Category
Children: Name: Infantile spasms-broad thumbs syndrome
OrphaCode: 3173
DisorderType: Disease
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: Oculocerebrocutaneous syndrome
OrphaCode: 1647
DisorderType: Malformation syndrome
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: DEND syndrome
OrphaCode: 79134
DisorderType: Disease
Name: Neonatal epilepsy syndrome
OrphaCode: 98257
DisorderType: Category
Children: Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Early myoclonic encephalopathy
OrphaCode: 1935
DisorderType: Clinical syndrome
Name: Benign familial neonatal epilepsy
OrphaCode: 1949
DisorderType: Disease
Name: Severe neonatal-onset encephalopathy with microcephaly
OrphaCode: 209370
DisorderType: Disease
Name: Malignant migrating focal seizures of infancy
OrphaCode: 293181
DisorderType: Disease
Name: Epileptic encephalopathy with global cerebral demyelination
OrphaCode: 353217
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Infantile epilepsy syndrome
OrphaCode: 98258
DisorderType: Category
Children: Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Myoclonic epilepsy of infancy
OrphaCode: 86909
DisorderType: Disease
Name: Myoclonic epilepsy in non-progressive encephalopathies
OrphaCode: 86913
DisorderType: Malformation syndrome
Name: Benign partial infantile seizures
OrphaCode: 166311
DisorderType: Clinical group
Children: Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Benign non-familial infantile seizures
OrphaCode: 166295
DisorderType: Clinical group
Children: Name: Benign partial epilepsy of infancy with complex partial seizures
OrphaCode: 166299
DisorderType: Disease
Name: Benign partial epilepsy with secondarily generalized seizures in infancy
OrphaCode: 166302
DisorderType: Disease
Name: Benign infantile seizures associated with mild gastroenteritis
OrphaCode: 166305
DisorderType: Disease
Name: Benign infantile focal epilepsy with midline spikes and waves during sleep
OrphaCode: 166308
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Progressive myoclonic epilepsy with dystonia
OrphaCode: 352596
DisorderType: Disease
Name: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
OrphaCode: 391316
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: SYNGAP1-related developmental and epileptic encephalopathy
OrphaCode: 544254
DisorderType: Disease
Name: Childhood-onset epilepsy syndrome
OrphaCode: 98259
DisorderType: Category
Children: Name: Hot water reflex epilepsy
OrphaCode: 166412
DisorderType: Disease
Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: Myoclonic-astatic epilepsy
OrphaCode: 1942
DisorderType: Disease
Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Continuous spikes and waves during sleep
OrphaCode: 725
DisorderType: Disease
Name: Benign occipital epilepsy
OrphaCode: 25968
DisorderType: Disease
Children: Name: Benign childhood occipital epilepsy, Panayiotopoulos type
OrphaCode: 98815
DisorderType: Clinical subtype
Name: Benign childhood occipital epilepsy, Gastaut type
OrphaCode: 98816
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Landau-Kleffner syndrome
OrphaCode: 98818
DisorderType: Disease
Name: Cryptogenic late-onset epileptic spasms
OrphaCode: 163708
DisorderType: Disease
Name: Rolandic epilepsy-speech dyspraxia syndrome
OrphaCode: 163721
DisorderType: Disease
Name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
OrphaCode: 163727
DisorderType: Disease
Name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
OrphaCode: 289266
DisorderType: Disease
Name: Epilepsy with myoclonic absences
OrphaCode: 86911
DisorderType: Disease
Name: Adolescent-onset epilepsy syndrome
OrphaCode: 98260
DisorderType: Category
Children: Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Benign adult familial myoclonic epilepsy
OrphaCode: 86814
DisorderType: Disease
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: CNTNAP2-related developmental and epileptic encephalopathy
OrphaCode: 163681
DisorderType: Disease
Name: Action myoclonus-renal failure syndrome
OrphaCode: 163696
DisorderType: Disease
Name: Intermediate DEND syndrome
OrphaCode: 99989
DisorderType: Disease
Name: STXBP1-related encephalopathy
OrphaCode: 599373
DisorderType: Disease
Name: Neurocutaneous syndrome with epilepsy
OrphaCode: 166466
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Monogenic disease with epilepsy
OrphaCode: 166472
DisorderType: Category
Children: Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: X-linked intellectual disability-epilepsy syndrome
OrphaCode: 2076
DisorderType: Clinical group
Children: Name: X-linked intellectual disability, Hedera type
OrphaCode: 93952
DisorderType: Disease
Name: Female restricted epilepsy with intellectual disability
OrphaCode: 101039
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked epilepsy-learning disabilities-behavior disorders syndrome
OrphaCode: 85294
DisorderType: Disease
Name: ARX-related epileptic encephalopathy
OrphaCode: 182079
DisorderType: Clinical group
Children: Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: X-linked spasticity-intellectual disability-epilepsy syndrome
OrphaCode: 3175
DisorderType: Disease
Name: Partington syndrome
OrphaCode: 94083
DisorderType: Malformation syndrome
Name: Infantile epileptic-dyskinetic encephalopathy
OrphaCode: 364063
DisorderType: Disease
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Channelopathy with epilepsy
OrphaCode: 182083
DisorderType: Category
Children: Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Malignant migrating focal seizures of infancy
OrphaCode: 293181
DisorderType: Disease
Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Thiamine-responsive encephalopathy
OrphaCode: 199348
DisorderType: Disease
Name: Severe neonatal-onset encephalopathy with microcephaly
OrphaCode: 209370
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Progressive myoclonic epilepsy with dystonia
OrphaCode: 352596
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
OrphaCode: 391316
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: Lethal neonatal spasticity-epileptic encephalopathy syndrome
OrphaCode: 435845
DisorderType: Malformation syndrome
Name: KCNQ2-related epileptic encephalopathy
OrphaCode: 439218
DisorderType: Disease
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Episodic ataxia type 1
OrphaCode: 37612
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
OrphaCode: 397933
DisorderType: Disease
Name: Rare non-syndromic intellectual disability
OrphaCode: 101685
DisorderType: Disease
Children: Name: X-linked non-syndromic intellectual disability
OrphaCode: 777
DisorderType: Etiological subtype
Name: Autosomal recessive non-syndromic intellectual disability
OrphaCode: 88616
DisorderType: Etiological subtype
Name: Autosomal dominant non-syndromic intellectual disability
OrphaCode: 178469
DisorderType: Etiological subtype
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
OrphaCode: 166475
DisorderType: Category
Children: Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Cerebral malformation with epilepsy
OrphaCode: 166478
DisorderType: Category
Children: Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Hypothalamic hamartomas with gelastic seizures
OrphaCode: 86906
DisorderType: Disease
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Cerebral diseases of vascular origin with epilepsy
OrphaCode: 166487
DisorderType: Category
Children: Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Rare genetic medullar disease
OrphaCode: 183515
DisorderType: Category
Children: Name: Primary basilar invagination
OrphaCode: 2285
DisorderType: Morphological anomaly
Name: Ataxia-pancytopenia syndrome
OrphaCode: 2585
DisorderType: Malformation syndrome
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Hereditary ataxia
OrphaCode: 183518
DisorderType: Category
Children: Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Ataxia-tapetoretinal degeneration syndrome
OrphaCode: 1178
DisorderType: Disease
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Spinocerebellar ataxia-dysmorphism syndrome
OrphaCode: 1185
DisorderType: Disease
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
OrphaCode: 2274
DisorderType: Disease
Name: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
OrphaCode: 2579
DisorderType: Disease
Name: Myoclonus-cerebellar ataxia-deafness syndrome
OrphaCode: 2589
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Hereditary episodic ataxia
OrphaCode: 211062
DisorderType: Category
Children: Name: Familial paroxysmal ataxia
OrphaCode: 97
DisorderType: Disease
Name: Episodic ataxia type 1
OrphaCode: 37612
DisorderType: Disease
Name: Episodic ataxia type 3
OrphaCode: 79135
DisorderType: Disease
Name: Episodic ataxia type 4
OrphaCode: 79136
DisorderType: Disease
Name: Episodic ataxia type 6
OrphaCode: 209967
DisorderType: Disease
Name: Episodic ataxia type 7
OrphaCode: 209970
DisorderType: Disease
Name: Episodic ataxia type 5
OrphaCode: 211067
DisorderType: Disease
Name: Episodic ataxia with slurred speech
OrphaCode: 401953
DisorderType: Disease
Name: X-linked cerebellar ataxia
OrphaCode: 247765
DisorderType: Category
Children: Name: X-linked progressive cerebellar ataxia
OrphaCode: 1175
DisorderType: Disease
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: X-linked sideroblastic anemia and spinocerebellar ataxia
OrphaCode: 2802
DisorderType: Disease
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-ataxia-apraxia syndrome
OrphaCode: 85338
DisorderType: Disease
Name: Fragile X-associated tremor/ataxia syndrome
OrphaCode: 93256
DisorderType: Malformation syndrome
Name: X-linked non progressive cerebellar ataxia
OrphaCode: 314978
DisorderType: Disease
Name: Spastic ataxia
OrphaCode: 316226
DisorderType: Clinical group
Children: Name: Autosomal dominant spastic ataxia
OrphaCode: 316235
DisorderType: Category
Children: Name: Spastic ataxia with congenital miosis
OrphaCode: 1182
DisorderType: Disease
Name: Autosomal dominant spastic ataxia type 1
OrphaCode: 251282
DisorderType: Disease
Name: Autosomal recessive spastic ataxia
OrphaCode: 316240
DisorderType: Category
Children: Name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
OrphaCode: 98
DisorderType: Disease
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
OrphaCode: 254343
DisorderType: Disease
Name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
OrphaCode: 313772
DisorderType: Disease
Name: Autosomal recessive spastic ataxia with leukoencephalopathy
OrphaCode: 314603
DisorderType: Disease
Name: Spastic ataxia-dysarthria due to glutaminase deficiency
OrphaCode: 557056
DisorderType: Disease
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: Childhood-onset spasticity with hyperglycinemia
OrphaCode: 401866
DisorderType: Disease
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Neuhauser-Eichner-Opitz syndrome
OrphaCode: 2672
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
DisorderType: Clinical subtype
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: Rare genetic movement disorder
OrphaCode: 183521
DisorderType: Category
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Familial congenital mirror movements
OrphaCode: 238722
DisorderType: Disease
Name: Rare genetic hyperkinetic movement disorder
OrphaCode: 496916
DisorderType: Category
Children: Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: Neurodegenerative disease with chorea
OrphaCode: 306719
DisorderType: Category
Children: Name: Childhood-onset benign chorea with striatal involvement
OrphaCode: 494541
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Benign hereditary chorea
OrphaCode: 1429
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: Motor stereotypies
OrphaCode: 306765
DisorderType: Category
Children: Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Rare genetic tremor disorder
OrphaCode: 307061
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Hereditary geniospasm
OrphaCode: 53372
DisorderType: Disease
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Fragile X-associated tremor/ataxia syndrome
OrphaCode: 93256
DisorderType: Malformation syndrome
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: Rare genetic myoclonus
OrphaCode: 307064
DisorderType: Category
Children: Name: Primary myoclonus
OrphaCode: 306750
DisorderType: Category
Children: Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: Benign adult familial myoclonic epilepsy
OrphaCode: 86814
DisorderType: Disease
Name: Familial cortical myoclonus
OrphaCode: 319189
DisorderType: Disease
Name: Hemifacial spasm
OrphaCode: 221083
DisorderType: Disease
Name: Rare genetic disease with myoclonus as a major feature
OrphaCode: 307067
DisorderType: Category
Children: Name: Epilepsy and/or ataxia with myoclonus as a major feature
OrphaCode: 306756
DisorderType: Category
Children: Name: Non progressive epilepsy and/or ataxia with myoclonus as a major feature
OrphaCode: 306759
DisorderType: Category
Children: Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Rare genetic dystonia
OrphaCode: 391799
DisorderType: Category
Children: Name: Combined dystonia
OrphaCode: 98203
DisorderType: Category
Children: Name: Paroxysmal dystonia
OrphaCode: 200037
DisorderType: Clinical group
Children: Name: Paroxysmal dyskinesia
OrphaCode: 1431
DisorderType: Clinical group
Children: Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Paroxysmal kinesigenic dyskinesia
OrphaCode: 98809
DisorderType: Disease
Name: Paroxysmal non-kinesigenic dyskinesia
OrphaCode: 98810
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
OrphaCode: 53583
DisorderType: Disease
Name: Benign paroxysmal torticollis of infancy
OrphaCode: 71518
DisorderType: Disease
Name: Persistent combined dystonia
OrphaCode: 391711
DisorderType: Clinical group
Children: Name: Dystonia 28
OrphaCode: 589618
DisorderType: Disease
Name: Dystonia-parkinsonism-hypermanganesemia syndrome
OrphaCode: 521406
DisorderType: Disease
Name: Dopa-responsive dystonia
OrphaCode: 255
DisorderType: Clinical group
Children: Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: X-linked dystonia-parkinsonism
OrphaCode: 53351
DisorderType: Disease
Name: Rapid-onset dystonia-parkinsonism
OrphaCode: 71517
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Dystonia 16
OrphaCode: 210571
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: Brain dopamine-serotonin vesicular transport disease
OrphaCode: 352649
DisorderType: Disease
Name: Infantile epileptic-dyskinetic encephalopathy
OrphaCode: 364063
DisorderType: Disease
Name: Ataxia-telangiectasia variant
OrphaCode: 370109
DisorderType: Disease
Name: Dystonia-aphonia syndrome
OrphaCode: 412217
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: Hyperphenylalaninemia due to DNAJC12 deficiency
OrphaCode: 508523
DisorderType: Disease
Name: Isolated dystonia
OrphaCode: 156159
DisorderType: Category
Children: Name: Focal, segmental or multifocal dystonia
OrphaCode: 1866
DisorderType: Category
Children: Name: Oromandibular dystonia
OrphaCode: 93958
DisorderType: Disease
Name: Blepharospasm-oromandibular dystonia syndrome
OrphaCode: 93964
DisorderType: Disease
Name: Primary dystonia, DYT4 type
OrphaCode: 98805
DisorderType: Disease
Name: Primary dystonia, DYT13 type
OrphaCode: 98807
DisorderType: Disease
Name: Primary dystonia, DYT2 type
OrphaCode: 99657
DisorderType: Disease
Name: Autosomal dominant focal dystonia, DYT25 type
OrphaCode: 329466
DisorderType: Disease
Name: Primary dystonia, DYT17 type
OrphaCode: 370103
DisorderType: Disease
Name: Cranio-cervical dystonia with laryngeal and upper-limb involvement
OrphaCode: 420485
DisorderType: Disease
Name: Adult-onset cervical dystonia, DYT23 type
OrphaCode: 420492
DisorderType: Disease
Name: Primary dystonia, DYT27 type
OrphaCode: 464440
DisorderType: Disease
Name: Infantile-onset generalized dyskinesia with orofacial involvement
OrphaCode: 494526
DisorderType: Disease
Name: Generalized isolated dystonia
OrphaCode: 376724
DisorderType: Category
Children: Name: Early-onset generalized limb-onset dystonia
OrphaCode: 256
DisorderType: Disease
Name: Primary dystonia, DYT6 type
OrphaCode: 98806
DisorderType: Disease
Name: Primary dystonia, DYT21 type
OrphaCode: 306734
DisorderType: Disease
Name: Rare disorder with dystonia and other neurologic or systemic manifestation
OrphaCode: 370106
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Childhood-onset basal ganglia degeneration syndrome
OrphaCode: 497906
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
OrphaCode: 597623
DisorderType: Disease
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
OrphaCode: 660017
DisorderType: Disease
Children: Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
OrphaCode: 660012
DisorderType: Etiological subtype
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: Rare paroxysmal movement disorder
OrphaCode: 306768
DisorderType: Category
Children: Name: Benign paroxysmal tonic upgaze of childhood with ataxia
OrphaCode: 1179
DisorderType: Disease
Name: Paroxysmal dystonia
OrphaCode: 200037
DisorderType: Clinical group
Children: Name: Paroxysmal dyskinesia
OrphaCode: 1431
DisorderType: Clinical group
Children: Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Paroxysmal kinesigenic dyskinesia
OrphaCode: 98809
DisorderType: Disease
Name: Paroxysmal non-kinesigenic dyskinesia
OrphaCode: 98810
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
OrphaCode: 53583
DisorderType: Disease
Name: Benign paroxysmal torticollis of infancy
OrphaCode: 71518
DisorderType: Disease
Name: Familial dyskinesia and facial myokymia
OrphaCode: 324588
DisorderType: Disease
Name: Rare genetic parkinsonian disorder
OrphaCode: 307052
DisorderType: Category
Children: Name: Rapid-onset dystonia-parkinsonism
OrphaCode: 71517
DisorderType: Disease
Name: Rare parkinsonian syndrome due to genetic neurodegenerative disease
OrphaCode: 307055
DisorderType: Category
Children: Name: Young-onset Parkinson disease
OrphaCode: 2828
DisorderType: Disease
Name: Early-onset parkinsonism-intellectual disability syndrome
OrphaCode: 2379
DisorderType: Disease
Name: X-linked dystonia-parkinsonism
OrphaCode: 53351
DisorderType: Disease
Name: Parkinsonian-pyramidal syndrome
OrphaCode: 171695
DisorderType: Disease
Name: Perry syndrome
OrphaCode: 178509
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Dystonia 16
OrphaCode: 210571
DisorderType: Disease
Name: Autosomal dominant striatal neurodegeneration
OrphaCode: 228169
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: Hemiparkinsonism-hemiatrophy syndrome
OrphaCode: 306669
DisorderType: Disease
Name: ATP13A2-related parkinsonism
OrphaCode: 514980
DisorderType: Clinical group
Children: Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
OrphaCode: 309854
DisorderType: Disease
Name: X-linked parkinsonism-spasticity syndrome
OrphaCode: 363654
DisorderType: Disease
Name: Atypical juvenile parkinsonism
OrphaCode: 391411
DisorderType: Disease
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Parkinsonism with polyneuropathy
OrphaCode: 611237
DisorderType: Disease
Name: Miscellaneous movement disorder due to genetic neurodegenerative disease
OrphaCode: 307058
DisorderType: Category
Children: Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Neuronal intranuclear inclusion disease
OrphaCode: 2289
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Huntington disease-like 3
OrphaCode: 157946
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: Frontotemporal neurodegeneration with movement disorder
OrphaCode: 306708
DisorderType: Category
Children: Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Corticobasal syndrome
OrphaCode: 454887
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
OrphaCode: 369847
DisorderType: Disease
Name: Rare genetic intellectual disability
OrphaCode: 183757
DisorderType: Category
Children: Name: Rare non-syndromic intellectual disability
OrphaCode: 101685
DisorderType: Disease
Children: Name: X-linked non-syndromic intellectual disability
OrphaCode: 777
DisorderType: Etiological subtype
Name: Autosomal recessive non-syndromic intellectual disability
OrphaCode: 88616
DisorderType: Etiological subtype
Name: Autosomal dominant non-syndromic intellectual disability
OrphaCode: 178469
DisorderType: Etiological subtype
Name: Rare genetic syndromic intellectual disability
OrphaCode: 183763
DisorderType: Category
Children: Name: Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OrphaCode: 611327
DisorderType: Category
Children: Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
OrphaCode: 662829
DisorderType: Disease
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
OrphaCode: 662198
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Intellectual disability-cupped ears syndrome
OrphaCode: 656135
DisorderType: Disease
Name: CHD4-related neurodevelopmental disorder
OrphaCode: 653712
DisorderType: Disease
Name: Jansen-de Vries syndrome
OrphaCode: 653767
DisorderType: Disease
Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
OrphaCode: 658843
DisorderType: Disease
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662175
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
OrphaCode: 646278
DisorderType: Disease
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Cleft palate-congenital heart defect-intellectual disability syndrome
OrphaCode: 652519
DisorderType: Disease
Children: Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
OrphaCode: 652514
DisorderType: Clinical subtype
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
OrphaCode: 664430
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
OrphaCode: 2928
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Schimke type
OrphaCode: 85285
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stocco Dos Santos type
OrphaCode: 85288
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
OrphaCode: 85320
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Seemanova type
OrphaCode: 85323
DisorderType: Disease
Name: X-linked intellectual disability, Shrimpton type
OrphaCode: 85324
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
OrphaCode: 85327
DisorderType: Disease
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked intellectual disability, Nascimento type
OrphaCode: 163956
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-craniofacioskeletal syndrome
OrphaCode: 163979
DisorderType: Disease
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Holoprosencephaly-postaxial polydactyly syndrome
OrphaCode: 2166
DisorderType: Malformation syndrome
Name: Microcephaly-glomerulonephritis-marfanoid habitus syndrome
OrphaCode: 2172
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Marfanoid habitus-autosomal recessive intellectual disability syndrome
OrphaCode: 2463
DisorderType: Malformation syndrome
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Montreal type
OrphaCode: 2617
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Global developmental delay-osteopenia-ectodermal defect syndrome
OrphaCode: 73223
DisorderType: Malformation syndrome
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: S-adenosylhomocysteine hydrolase deficiency
OrphaCode: 88618
DisorderType: Disease
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
OrphaCode: 2958
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
OrphaCode: 314575
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Cerebrofacioarticular syndrome
OrphaCode: 314679
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Wiedemann-Steiner syndrome
OrphaCode: 319182
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
OrphaCode: 435938
DisorderType: Malformation syndrome
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
OrphaCode: 438213
DisorderType: Disease
Children: Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
OrphaCode: 438216
DisorderType: Etiological subtype
Name: PDE4D haploinsufficiency syndrome
OrphaCode: 439822
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
OrphaCode: 457279
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
OrphaCode: 457485
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome
OrphaCode: 464306
DisorderType: Malformation syndrome
Children: Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Intellectual disability syndrome due to a DYRK1A point mutation
OrphaCode: 464311
DisorderType: Etiological subtype
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
OrphaCode: 466791
DisorderType: Malformation syndrome
Name: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
OrphaCode: 466943
DisorderType: Malformation syndrome
Children: Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
OrphaCode: 466950
DisorderType: Clinical subtype
Name: White-Sutton syndrome
OrphaCode: 468678
DisorderType: Disease
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
OrphaCode: 476126
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
OrphaCode: 480907
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Pierpont syndrome
OrphaCode: 487825
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: TBCK-related intellectual disability syndrome
OrphaCode: 488632
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: RERE-related neurodevelopmental syndrome
OrphaCode: 494344
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: Witteveen-Kolk syndrome
OrphaCode: 500163
DisorderType: Malformation syndrome
Children: Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: SIN3-related intellectual disability syndrome due to a point mutation
OrphaCode: 500166
DisorderType: Etiological subtype
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Craniodigital-intellectual disability syndrome
OrphaCode: 1514
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
OrphaCode: 1825
DisorderType: Malformation syndrome
Name: Paraplegia-intellectual disability-hyperkeratosis syndrome
OrphaCode: 2824
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Fryns syndrome
OrphaCode: 2059
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Abidi type
OrphaCode: 85273
DisorderType: Malformation syndrome
Name: Syndromic X-linked intellectual disability 7
OrphaCode: 85274
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
OrphaCode: 85280
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stevenson type
OrphaCode: 85325
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Snyder type
OrphaCode: 3063
DisorderType: Disease
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Intellectual disability-expressive aphasia-facial dysmorphism syndrome
OrphaCode: 436151
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: Lamb-Shaffer syndrome
OrphaCode: 530983
DisorderType: Disease
Children: Name: Developmental and speech delay due to SOX5 deficiency
OrphaCode: 313892
DisorderType: Clinical subtype
Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Intellectual disability, Buenos-Aires type
OrphaCode: 3079
DisorderType: Malformation syndrome
Name: Intellectual disability, Wolff type
OrphaCode: 3080
DisorderType: Malformation syndrome
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Ruvalcaba syndrome
OrphaCode: 3121
DisorderType: Malformation syndrome
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Omphalocele syndrome, Shprintzen-Goldberg type
OrphaCode: 3164
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
OrphaCode: 1277
DisorderType: Malformation syndrome
Name: Facial dysmorphism-shawl scrotum-joint laxity syndrome
OrphaCode: 1778
DisorderType: Malformation syndrome
Name: Intellectual disability-short stature-hypertelorism syndrome
OrphaCode: 3074
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: Fryns-Smeets-Thiry syndrome
OrphaCode: 2058
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: Arachnodactyly-intellectual disability-dysmorphism syndrome
OrphaCode: 1130
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Pai type
OrphaCode: 85322
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stoll type
OrphaCode: 85326
DisorderType: Malformation syndrome
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Kagami-Ogata syndrome
OrphaCode: 254519
DisorderType: Malformation syndrome
Children: Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
OrphaCode: 254534
DisorderType: Etiological subtype
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Kleefstra syndrome
OrphaCode: 261494
DisorderType: Malformation syndrome
Children: Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Kleefstra syndrome due to a point mutation
OrphaCode: 261652
DisorderType: Etiological subtype
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
OrphaCode: 642763
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Prominent glabella-microcephaly-hypogenitalism syndrome
OrphaCode: 2083
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Preaxial polydactyly-colobomata-intellectual disability syndrome
OrphaCode: 2921
DisorderType: Malformation syndrome
Name: Nicolaides-Baraitser syndrome
OrphaCode: 3051
DisorderType: Malformation syndrome
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Intellectual disability-polydactyly-uncombable hair syndrome
OrphaCode: 3082
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: BRESEK syndrome
OrphaCode: 85284
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OrphaCode: 85317
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
OrphaCode: 85319
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
OrphaCode: 85329
DisorderType: Malformation syndrome
Name: Fried syndrome
OrphaCode: 85335
DisorderType: Malformation syndrome
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
OrphaCode: 502434
DisorderType: Malformation syndrome
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Gabriele-de Vries syndrome
OrphaCode: 506358
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
OrphaCode: 513456
DisorderType: Disease
Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
OrphaCode: 529965
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
OrphaCode: 599082
DisorderType: Malformation syndrome
Name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
OrphaCode: 600668
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Short stature-wormian bones-dextrocardia syndrome
OrphaCode: 2863
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
OrphaCode: 675782
DisorderType: Disease
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Pterygium colli-intellectual disability-digital anomalies syndrome
OrphaCode: 2988
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Fallot complex-intellectual disability-growth delay syndrome
OrphaCode: 3304
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Urban-Rogers-Meyer syndrome
OrphaCode: 3409
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
OrphaCode: 94066
DisorderType: Malformation syndrome
Name: Biemond syndrome type 2
OrphaCode: 141333
DisorderType: Disease
Name: Zechi-Ceide syndrome
OrphaCode: 217017
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Pseudoaminopterin syndrome
OrphaCode: 221120
DisorderType: Malformation syndrome
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
OrphaCode: 324416
DisorderType: Malformation syndrome
Name: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
OrphaCode: 324540
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Schuurs-Hoeijmakers syndrome
OrphaCode: 329224
DisorderType: Malformation syndrome
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Bainbridge-Ropers syndrome
OrphaCode: 352577
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
OrphaCode: 357175
DisorderType: Malformation syndrome
Name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
OrphaCode: 363444
DisorderType: Malformation syndrome
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: FOXP1 Syndrome
OrphaCode: 391372
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Cooper-Jabs syndrome
OrphaCode: 1488
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: Epilepsy-microcephaly-skeletal dysplasia syndrome
OrphaCode: 1948
DisorderType: Malformation syndrome
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Agnathia-holoprosencephaly-situs inversus syndrome
OrphaCode: 990
DisorderType: Malformation syndrome
Name: Hall-Riggs syndrome
OrphaCode: 2107
DisorderType: Malformation syndrome
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Hernández-Aguirre Negrete syndrome
OrphaCode: 2139
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Stimmler syndrome
OrphaCode: 3199
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Renpenning syndrome
OrphaCode: 3242
DisorderType: Malformation syndrome
Children: Name: X-linked intellectual disability, Porteous type
OrphaCode: 93945
DisorderType: Clinical subtype
Name: Hamel cerebro-palato-cardiac syndrome
OrphaCode: 93946
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Golabi-Ito-Hall type
OrphaCode: 93947
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Sutherland-Haan type
OrphaCode: 93950
DisorderType: Clinical subtype
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: CTCF-related neurodevelopmental disorder
OrphaCode: 363611
DisorderType: Disease
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OrphaCode: 363686
DisorderType: Disease
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: X-linked intellectual disability due to GRIA3 mutations
OrphaCode: 364028
DisorderType: Disease
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-facial dysmorphism-hand anomalies syndrome
OrphaCode: 370010
DisorderType: Malformation syndrome
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
OrphaCode: 391307
DisorderType: Malformation syndrome
Name: Macrocephaly-developmental delay syndrome
OrphaCode: 397612
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Microcephaly-thin corpus callosum-intellectual disability syndrome
OrphaCode: 397951
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
OrphaCode: 404440
DisorderType: Malformation syndrome
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: ADNP syndrome
OrphaCode: 404448
DisorderType: Malformation syndrome
Name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
OrphaCode: 404451
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive spastic diplegia syndrome
OrphaCode: 404473
DisorderType: Malformation syndrome
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Hennekam-Beemer syndrome
OrphaCode: 2135
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
OrphaCode: 2180
DisorderType: Malformation syndrome
Name: Isotretinoin-like syndrome
OrphaCode: 2306
DisorderType: Malformation syndrome
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
OrphaCode: 619233
DisorderType: Disease
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
OrphaCode: 662234
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Lujan-Fryns syndrome
OrphaCode: 776
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
OrphaCode: 1110
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: Atkin-Flaitz syndrome
OrphaCode: 1193
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Congenital intrauterine infection-like syndrome
OrphaCode: 1229
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Bonnemann-Meinecke-Reich syndrome
OrphaCode: 1261
DisorderType: Malformation syndrome
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Congenital heart defect-round face-developmental delay syndrome
OrphaCode: 1355
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: Short stature-webbed neck-heart disease syndrome
OrphaCode: 2865
DisorderType: Malformation syndrome
Name: Pfeiffer-Palm-Teller syndrome
OrphaCode: 2871
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Shashi type
OrphaCode: 85286
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Siderius type
OrphaCode: 85287
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cabezas type
OrphaCode: 85293
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 611314
DisorderType: Category
Children: Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Combined malonic and methylmalonic acidemia
OrphaCode: 289504
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Infantile-onset generalized dyskinesia with orofacial involvement
OrphaCode: 494526
DisorderType: Disease
Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
OrphaCode: 1008
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Intellectual disability-myopathy-short stature-endocrine defect syndrome
OrphaCode: 3068
DisorderType: Disease
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Hereditary cryohydrocytosis with reduced stomatin
OrphaCode: 168577
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: Dystonia-parkinsonism-hypermanganesemia syndrome
OrphaCode: 521406
DisorderType: Disease
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Early-onset parkinsonism-intellectual disability syndrome
OrphaCode: 2379
DisorderType: Disease
Name: Growth delay-intellectual disability-hepatopathy syndrome
OrphaCode: 541423
DisorderType: Disease
Name: STXBP1-related encephalopathy
OrphaCode: 599373
DisorderType: Disease
Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OrphaCode: 2255
DisorderType: Disease
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Maple syrup urine disease
OrphaCode: 511
DisorderType: Disease
Children: Name: Classic maple syrup urine disease
OrphaCode: 268145
DisorderType: Clinical subtype
Name: Intermediate maple syrup urine disease
OrphaCode: 268162
DisorderType: Clinical subtype
Name: Intermittent maple syrup urine disease
OrphaCode: 268173
DisorderType: Clinical subtype
Name: Thiamine-responsive maple syrup urine disease
OrphaCode: 268184
DisorderType: Clinical subtype
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: 3-methylglutaconic aciduria type 8
OrphaCode: 505208
DisorderType: Disease
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Congenital brain dysgenesis due to glutamine synthetase deficiency
OrphaCode: 71278
DisorderType: Disease
Name: Methionine adenosyltransferase I/III deficiency
OrphaCode: 168598
DisorderType: Disease
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
OrphaCode: 542306
DisorderType: Disease
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
OrphaCode: 600663
DisorderType: Malformation syndrome
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 64
OrphaCode: 401810
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Autosomal recessive spastic ataxia with leukoencephalopathy
OrphaCode: 314603
DisorderType: Disease
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 3222
DisorderType: Disease
Children: Name: Mild phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411536
DisorderType: Clinical subtype
Name: Severe phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411543
DisorderType: Clinical subtype
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 45
OrphaCode: 320396
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Severe X-linked mitochondrial encephalomyopathy
OrphaCode: 238329
DisorderType: Disease
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Stormorken-Sjaastad-Langslet syndrome
OrphaCode: 3204
DisorderType: Disease
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Björnstad syndrome
OrphaCode: 123
DisorderType: Disease
Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: Pyruvate carboxylase deficiency
OrphaCode: 3008
DisorderType: Disease
Children: Name: Pyruvate carboxylase deficiency, infantile type
OrphaCode: 353308
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, severe neonatal type
OrphaCode: 353314
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, benign type
OrphaCode: 353320
DisorderType: Clinical subtype
Name: Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
OrphaCode: 641361
DisorderType: Disease
Name: Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
OrphaCode: 641353
DisorderType: Disease
Name: Glutathione synthetase deficiency
OrphaCode: 32
DisorderType: Disease
Children: Name: Glutathione synthetase deficiency with 5-oxoprolinuria
OrphaCode: 289846
DisorderType: Clinical subtype
Name: Glutathione synthetase deficiency without 5-oxoprolinuria
OrphaCode: 289849
DisorderType: Clinical subtype
Name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633014
DisorderType: Disease
Children: Name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
OrphaCode: 633021
DisorderType: Clinical subtype
Name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633024
DisorderType: Clinical subtype
Name: Hao-Fountain syndrome
OrphaCode: 643549
DisorderType: Disease
Children: Name: Hao-Fountain syndrome due to USP7 mutation
OrphaCode: 643538
DisorderType: Etiological subtype
Name: Hao-Fountain syndrome due to 16p13.2 microdeletion
OrphaCode: 500055
DisorderType: Etiological subtype
Name: Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
OrphaCode: 647788
DisorderType: Disease
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
OrphaCode: 660017
DisorderType: Disease
Children: Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
OrphaCode: 660012
DisorderType: Etiological subtype
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Actinomyopathy-associated syndromic thrombocytopenia
OrphaCode: 674653
DisorderType: Disease
Name: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
OrphaCode: 675767
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: NESCAV syndrome
OrphaCode: 662367
DisorderType: Disease
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor type 1 deficiency
OrphaCode: 73272
DisorderType: Disease
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
OrphaCode: 2435
DisorderType: Disease
Name: Autosomal recessive proximal renal tubular acidosis
OrphaCode: 93607
DisorderType: Clinical subtype
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: X-linked spasticity-intellectual disability-epilepsy syndrome
OrphaCode: 3175
DisorderType: Disease
Name: X-linked intellectual disability-epilepsy syndrome
OrphaCode: 2076
DisorderType: Clinical group
Children: Name: X-linked intellectual disability, Hedera type
OrphaCode: 93952
DisorderType: Disease
Name: Female restricted epilepsy with intellectual disability
OrphaCode: 101039
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Cantagrel type
OrphaCode: 85277
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Wilson type
OrphaCode: 85290
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: X-linked epilepsy-learning disabilities-behavior disorders syndrome
OrphaCode: 85294
DisorderType: Disease
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Bertini type
OrphaCode: 85334
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Hamel type
OrphaCode: 85336
DisorderType: Disease
Name: X-linked intellectual disability-ataxia-apraxia syndrome
OrphaCode: 85338
DisorderType: Disease
Name: Partington syndrome
OrphaCode: 94083
DisorderType: Malformation syndrome
Name: Early-onset X-linked optic atrophy
OrphaCode: 98890
DisorderType: Disease
Name: FRAXE intellectual disability
OrphaCode: 100973
DisorderType: Disease
Name: Rolandic epilepsy-speech dyspraxia syndrome
OrphaCode: 163721
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Ornithine transcarbamylase deficiency
OrphaCode: 664
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: Intellectual disability, Birk-Barel type
OrphaCode: 166108
DisorderType: Disease
Name: Zellweger-like syndrome without peroxisomal anomalies
OrphaCode: 50812
DisorderType: Disease
Name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OrphaCode: 137898
DisorderType: Disease
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG5-CDG
OrphaCode: 263487
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: MAN1B1-CDG
OrphaCode: 397941
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
OrphaCode: 263410
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
OrphaCode: 280384
DisorderType: Disease
Name: Severe intellectual disability and progressive spastic paraplegia
OrphaCode: 280763
DisorderType: Disease
Name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
OrphaCode: 289266
DisorderType: Disease
Name: Intellectual disability-alacrima-achalasia syndrome
OrphaCode: 289483
DisorderType: Disease
Name: Distal Xq28 microduplication syndrome
OrphaCode: 293939
DisorderType: Malformation syndrome
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: ANK3-related intellectual disability-sleep disturbance syndrome
OrphaCode: 356996
DisorderType: Disease
Name: Primary non-essential cutis verticis gyrata
OrphaCode: 357225
DisorderType: Disease
Name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphaCode: 363523
DisorderType: Disease
Name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
OrphaCode: 369847
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Optic atrophy-intellectual disability syndrome
OrphaCode: 401777
DisorderType: Disease
Name: 3p25.3 microdeletion syndrome
OrphaCode: 435638
DisorderType: Malformation syndrome
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 9B
OrphaCode: 447760
DisorderType: Disease
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: 9q21.13 microdeletion syndrome
OrphaCode: 531151
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Combined oxidative phosphorylation defect type 39
OrphaCode: 565624
DisorderType: Disease
Name: WARS2-related combined oxidative phosphorylation defect
OrphaCode: 572798
DisorderType: Disease
Name: Dystonia 28
OrphaCode: 589618
DisorderType: Disease
Name: AICA-ribosiduria
OrphaCode: 250977
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 1
OrphaCode: 67046
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 54
OrphaCode: 320380
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Dilated cardiomyopathy with ataxia
OrphaCode: 66634
DisorderType: Disease
Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: Autosomal spastic paraplegia type 18
OrphaCode: 209951
DisorderType: Disease
Name: Ethylmalonic encephalopathy
OrphaCode: 51188
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Laminin subunit alpha 2-related congenital muscular dystrophy
OrphaCode: 258
DisorderType: Malformation syndrome
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 15
OrphaCode: 100996
DisorderType: Disease
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 26
OrphaCode: 101006
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 20
OrphaCode: 101000
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: Aminoacylase 1 deficiency
OrphaCode: 137754
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 53
OrphaCode: 319199
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 46
OrphaCode: 320391
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
OrphaCode: 88639
DisorderType: Disease
Name: Familial congenital mirror movements
OrphaCode: 238722
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Isovaleric acidemia
OrphaCode: 33
DisorderType: Disease
Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: Hereditary orotic aciduria
OrphaCode: 30
DisorderType: Disease
Name: Carnitine-acylcarnitine translocase deficiency
OrphaCode: 159
DisorderType: Disease
Name: TMEM70-related mitochondrial encephalo-cardio-myopathy
OrphaCode: 1194
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Familial acute necrotizing encephalopathy
OrphaCode: 88619
DisorderType: Disease
Name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
OrphaCode: 486815
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Brain dopamine-serotonin vesicular transport disease
OrphaCode: 352649
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor I resistance
OrphaCode: 73273
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 79644
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Isolated permanent neonatal diabetes mellitus
OrphaCode: 99885
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 10
OrphaCode: 100991
DisorderType: Disease
Name: CNTNAP2-related developmental and epileptic encephalopathy
OrphaCode: 163681
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Timothy syndrome
OrphaCode: 65283
DisorderType: Malformation syndrome
Children: Name: Timothy syndrome type 1
OrphaCode: 595098
DisorderType: Clinical subtype
Name: Timothy syndrome type 2
OrphaCode: 595105
DisorderType: Clinical subtype
Name: Atypical Timothy syndrome
OrphaCode: 595109
DisorderType: Clinical subtype
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Isolated cytochrome C oxidase deficiency
OrphaCode: 254905
DisorderType: Disease
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Legius syndrome
OrphaCode: 137605
DisorderType: Malformation syndrome
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Acrogeria
OrphaCode: 2500
DisorderType: Malformation syndrome
Name: Griscelli syndrome
OrphaCode: 381
DisorderType: Disease
Children: Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Griscelli syndrome type 3
OrphaCode: 79478
DisorderType: Clinical subtype
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Hyperammonemia due to N-acetylglutamate synthase deficiency
OrphaCode: 927
DisorderType: Disease
Name: Isolated succinate-CoQ reductase deficiency
OrphaCode: 3208
DisorderType: Disease
Name: Familial glucocorticoid deficiency
OrphaCode: 361
DisorderType: Disease
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
OrphaCode: 324410
DisorderType: Disease
Name: X-linked intellectual disability-hypotonia-movement disorder syndrome
OrphaCode: 457260
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: PGM3-CDG
OrphaCode: 443811
DisorderType: Disease
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 27
OrphaCode: 477774
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: RARS-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 438114
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Congenital insensitivity to pain with severe intellectual disability
OrphaCode: 453510
DisorderType: Disease
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 466934
DisorderType: Disease
Name: Intellectual disability-epilepsy-extrapyramidal syndrome
OrphaCode: 468620
DisorderType: Disease
Name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
OrphaCode: 477673
DisorderType: Disease
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
OrphaCode: 589547
DisorderType: Disease
Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: ALG12-CDG
OrphaCode: 79324
DisorderType: Disease
Name: Hereditary methemoglobinemia
OrphaCode: 621
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
OrphaCode: 415
DisorderType: Disease
Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: KCNQ2-related epileptic encephalopathy
OrphaCode: 439218
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Myoclonic-astatic epilepsy
OrphaCode: 1942
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 56
OrphaCode: 320411
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 75
OrphaCode: 459056
DisorderType: Disease
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Moyamoya disease
OrphaCode: 2573
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria
OrphaCode: 26
DisorderType: Disease
Children: Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblD
OrphaCode: 79283
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria type cblF
OrphaCode: 79284
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblJ
OrphaCode: 369955
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblX
OrphaCode: 369962
DisorderType: Clinical subtype
Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Fatal infantile cytochrome C oxidase deficiency
OrphaCode: 1561
DisorderType: Disease
Name: Isolated complex III deficiency
OrphaCode: 1460
DisorderType: Disease
Name: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
OrphaCode: 168566
DisorderType: Disease
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Infantile choroidocerebral calcification syndrome
OrphaCode: 1313
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 11
OrphaCode: 2822
DisorderType: Disease
Name: Alopecia-intellectual disability syndrome
OrphaCode: 2850
DisorderType: Disease
Name: Piebald trait-neurologic defects syndrome
OrphaCode: 2885
DisorderType: Malformation syndrome
Name: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
OrphaCode: 3011
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: X-linked progressive cerebellar ataxia
OrphaCode: 1175
DisorderType: Disease
Name: Hereditary bullous dystrophy, macular type
OrphaCode: 1867
DisorderType: Disease
Name: Laryngeal abductor paralysis-intellectual disability syndrome
OrphaCode: 2375
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-psychosis-macroorchidism syndrome
OrphaCode: 3077
DisorderType: Malformation syndrome
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Monoamine oxidase A deficiency
OrphaCode: 3057
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: CLCN4-related X-linked intellectual disability syndrome
OrphaCode: 485350
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: Proximal 16p11.2 microduplication syndrome
OrphaCode: 370079
DisorderType: Malformation syndrome
Name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
OrphaCode: 412069
DisorderType: Malformation syndrome
Name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OrphaCode: 447997
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: Serine biosynthesis pathway deficiency, infantile/juvenile form
OrphaCode: 583595
DisorderType: Disease
Children: Name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OrphaCode: 79351
DisorderType: Etiological subtype
Name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
OrphaCode: 79350
DisorderType: Etiological subtype
Name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
OrphaCode: 284417
DisorderType: Etiological subtype
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Argininosuccinic aciduria
OrphaCode: 23
DisorderType: Disease
Name: ICF syndrome
OrphaCode: 2268
DisorderType: Malformation syndrome
Name: Hereditary sensory and autonomic neuropathy type 4
OrphaCode: 642
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Giant axonal neuropathy
OrphaCode: 643
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Beta-ketothiolase deficiency
OrphaCode: 134
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Multiple benign circumferential skin creases on limbs
OrphaCode: 2505
DisorderType: Disease
Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: HSD10 disease
OrphaCode: 391417
DisorderType: Disease
Children: Name: HSD10 disease, atypical type
OrphaCode: 85295
DisorderType: Clinical subtype
Name: HSD10 disease, infantile type
OrphaCode: 391428
DisorderType: Clinical subtype
Name: HSD10 disease, neonatal type
OrphaCode: 391457
DisorderType: Clinical subtype
Name: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
OrphaCode: 397933
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: SYNGAP1-related developmental and epileptic encephalopathy
OrphaCode: 544254
DisorderType: Disease
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Non-specific syndromic intellectual disability
OrphaCode: 528084
DisorderType: Disease
Name: Isolated childhood apraxia of speech
OrphaCode: 209908
DisorderType: Disease
Name: Alternating hemiplegia
OrphaCode: 209978
DisorderType: Clinical group
Children: Name: Alternating hemiplegia of childhood
OrphaCode: 2131
DisorderType: Disease
Name: Benign nocturnal alternating hemiplegia of childhood
OrphaCode: 209973
DisorderType: Disease
Name: Inherited congenital spastic tetraplegia
OrphaCode: 210141
DisorderType: Disease
Name: Rare genetic autonomic nervous system disorder
OrphaCode: 434786
DisorderType: Category
Children: Name: Congenital central hypoventilation syndrome
OrphaCode: 661
DisorderType: Disease
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Harlequin syndrome
OrphaCode: 199282
DisorderType: Disease
Name: Cramp-fasciculation syndrome
OrphaCode: 581271
DisorderType: Disease
Name: USP18 deficiency
OrphaCode: 481665
DisorderType: Disease
Name: Genetic primary orthostatic disorder
OrphaCode: 521232
DisorderType: Category
Children: Name: Genetic primary orthostatic hypotension
OrphaCode: 448426
DisorderType: Category
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Young-onset Parkinson disease
OrphaCode: 2828
DisorderType: Disease
Name: Peripheral motor neuropathy-dysautonomia syndrome
OrphaCode: 2400
DisorderType: Disease
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Postural orthostatic tachycardia syndrome due to NET deficiency
OrphaCode: 443236
DisorderType: Disease
Name: Recessive KLHL7-related disorder
OrphaCode: 603699
DisorderType: Clinical group
Children: Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: KLHL7-related Crisponi/cold-induced sweating-like syndrome
OrphaCode: 603694
DisorderType: Disease
Name: Rare genetic odontologic disease
OrphaCode: 77830
DisorderType: Category
Children: Name: Dentin dysplasia-sclerotic bones syndrome
OrphaCode: 99792
DisorderType: Disease
Name: Rare disease with dentinogenesis imperfecta
OrphaCode: 167762
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Malformative syndrome with dentinogenesis imperfecta
OrphaCode: 180766
DisorderType: Category
Children: Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Rare genetic odontal or periodontal disorder
OrphaCode: 420755
DisorderType: Category
Children: Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Dental ankylosis
OrphaCode: 1077
DisorderType: Malformation syndrome
Name: Hereditary gingival fibromatosis
OrphaCode: 2024
DisorderType: Malformation syndrome
Name: Fused mandibular incisors
OrphaCode: 2287
DisorderType: Morphological anomaly
Name: Amelogenesis imperfecta
OrphaCode: 88661
DisorderType: Disease
Children: Name: Hypoplastic amelogenesis imperfecta
OrphaCode: 100031
DisorderType: Clinical subtype
Name: Hypocalcified amelogenesis imperfecta
OrphaCode: 100032
DisorderType: Clinical subtype
Name: Hypomaturation amelogenesis imperfecta
OrphaCode: 100033
DisorderType: Clinical subtype
Name: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
OrphaCode: 100034
DisorderType: Clinical subtype
Name: Anodontia
OrphaCode: 99797
DisorderType: Morphological anomaly
Name: Oligodontia
OrphaCode: 99798
DisorderType: Morphological anomaly
Name: Hereditary dentin defect
OrphaCode: 167759
DisorderType: Category
Children: Name: Dentin dysplasia
OrphaCode: 1653
DisorderType: Disease
Children: Name: Dentin dysplasia type I
OrphaCode: 99789
DisorderType: Clinical subtype
Name: Dentin dysplasia type II
OrphaCode: 99791
DisorderType: Clinical subtype
Name: Atypical dentin dysplasia due to SMOC2 deficiency
OrphaCode: 314721
DisorderType: Clinical subtype
Name: Dentinogenesis imperfecta
OrphaCode: 49042
DisorderType: Disease
Children: Name: Dentinogenesis imperfecta type 2
OrphaCode: 166260
DisorderType: Clinical subtype
Name: Dentinogenesis imperfecta type 3
OrphaCode: 166265
DisorderType: Clinical subtype
Name: Primary failure of tooth eruption
OrphaCode: 412206
DisorderType: Disease
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Hereditary angioedema
OrphaCode: 91378
DisorderType: Clinical group
Children: Name: Hereditary angioedema with C1Inh deficiency
OrphaCode: 528623
DisorderType: Disease
Children: Name: Hereditary angioedema type 1
OrphaCode: 100050
DisorderType: Etiological subtype
Name: Hereditary angioedema type 2
OrphaCode: 100051
DisorderType: Etiological subtype
Name: Hereditary angioedema with normal C1Inh
OrphaCode: 528647
DisorderType: Disease
Children: Name: F12-related hereditary angioedema with normal C1Inh
OrphaCode: 100054
DisorderType: Clinical subtype
Name: PLG-related hereditary angioedema with normal C1Inh
OrphaCode: 537072
DisorderType: Clinical subtype
Name: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
OrphaCode: 599418
DisorderType: Clinical subtype
Name: Genetic otorhinolaryngologic disease
OrphaCode: 466084
DisorderType: Category
Children: Name: Rare genetic deafness
OrphaCode: 96210
DisorderType: Category
Children: Name: Non-syndromic genetic deafness
OrphaCode: 87884
DisorderType: Disease
Children: Name: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
OrphaCode: 90636
DisorderType: Etiological subtype
Name: Rare mitochondrial non-syndromic sensorineural deafness
OrphaCode: 90641
DisorderType: Etiological subtype
Name: Rare X-linked non-syndromic sensorineural deafness type DFN
OrphaCode: 90625
DisorderType: Etiological subtype
Name: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
OrphaCode: 90635
DisorderType: Etiological subtype
Name: Syndromic genetic deafness
OrphaCode: 90642
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
OrphaCode: 521445
DisorderType: Malformation syndrome
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
OrphaCode: 293958
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Sinoatrial node dysfunction and deafness
OrphaCode: 324321
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation with deafness as a major feature
OrphaCode: 371212
DisorderType: Category
Children: Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Progressive autosomal recessive ataxia-deafness syndrome
OrphaCode: 448251
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Albinism-deafness syndrome
OrphaCode: 998
DisorderType: Malformation syndrome
Name: Ermine phenotype
OrphaCode: 999
DisorderType: Malformation syndrome
Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OrphaCode: 1144
DisorderType: Malformation syndrome
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: Corneal dystrophy-perceptive deafness syndrome
OrphaCode: 1490
DisorderType: Malformation syndrome
Name: Craniofacial-deafness-hand syndrome
OrphaCode: 1529
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-deafness syndrome
OrphaCode: 2202
DisorderType: Disease
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Keratoderma hereditarium mutilans
OrphaCode: 494
DisorderType: Disease
Name: Thickened earlobes-conductive deafness syndrome
OrphaCode: 2405
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Conductive deafness-malformed external ear syndrome
OrphaCode: 3216
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Mitchell Syndrome
OrphaCode: 631248
DisorderType: Disease
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
OrphaCode: 457223
DisorderType: Disease
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myoclonus-cerebellar ataxia-deafness syndrome
OrphaCode: 2589
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Nephropathy-deafness-hyperparathyroidism syndrome
OrphaCode: 2668
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
OrphaCode: 2698
DisorderType: Disease
Name: Olivopontocerebellar atrophy-deafness syndrome
OrphaCode: 2732
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Spastic paraparesis-deafness syndrome
OrphaCode: 2815
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
OrphaCode: 2866
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Deafness-small bowel diverticulosis-neuropathy syndrome
OrphaCode: 3217
DisorderType: Disease
Name: Deafness-epiphyseal dysplasia-short stature syndrome
OrphaCode: 3218
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
OrphaCode: 3225
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Deafness-ear malformation-facial palsy syndrome
OrphaCode: 3232
DisorderType: Malformation syndrome
Name: Cochleosaccular degeneration-cataract syndrome
OrphaCode: 3233
DisorderType: Malformation syndrome
Name: Progressive deafness with stapes fixation
OrphaCode: 3235
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Cardiospondylocarpofacial syndrome
OrphaCode: 3238
DisorderType: Malformation syndrome
Name: Deafness-vitiligo-achalasia syndrome
OrphaCode: 3239
DisorderType: Malformation syndrome
Name: Deafness-craniofacial syndrome
OrphaCode: 3241
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Tietz syndrome
OrphaCode: 42665
DisorderType: Malformation syndrome
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Branchiootic syndrome
OrphaCode: 52429
DisorderType: Malformation syndrome
Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Athabaskan brainstem dysgenesis syndrome
OrphaCode: 69739
DisorderType: Disease
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Deafness with labyrinthine aplasia, microtia, and microdontia
OrphaCode: 90024
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: Jervell and Lange-Nielsen syndrome
OrphaCode: 90647
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1E
OrphaCode: 90658
DisorderType: Disease
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Neuropathy with hearing impairment
OrphaCode: 139512
DisorderType: Disease
Name: Stapes ankylosis with broad thumbs and toes
OrphaCode: 140917
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
OrphaCode: 494444
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633014
DisorderType: Disease
Children: Name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
OrphaCode: 633021
DisorderType: Clinical subtype
Name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633024
DisorderType: Clinical subtype
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Adult-onset progressive leukoencephalopathy-early-onset deafness
OrphaCode: 652532
DisorderType: Disease
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Familial nasal acilia
OrphaCode: 922
DisorderType: Disease
Name: Isolated congenital anosmia
OrphaCode: 88620
DisorderType: Disease
Name: Genetic otorhinolaryngological malformation
OrphaCode: 435603
DisorderType: Category
Children: Name: Pinnae and external auditory canal anomaly
OrphaCode: 156243
DisorderType: Category
Children: Name: Microtia
OrphaCode: 83463
DisorderType: Morphological anomaly
Name: Anotia
OrphaCode: 93976
DisorderType: Morphological anomaly
Name: External auditory canal aplasia/hypoplasia
OrphaCode: 141074
DisorderType: Morphological anomaly
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Genetic nose and cavum anomaly
OrphaCode: 435606
DisorderType: Category
Children: Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Genetic larynx anomaly
OrphaCode: 435609
DisorderType: Category
Children: Name: Congenital laryngomalacia
OrphaCode: 2373
DisorderType: Malformation syndrome
Name: Isolated congenital laryngeal web
OrphaCode: 2374
DisorderType: Malformation syndrome
Name: Larynx atresia
OrphaCode: 1202
DisorderType: Malformation syndrome
Name: Congenital velopharyngeal incompetence
OrphaCode: 2291
DisorderType: Morphological anomaly
Name: Laryngeal abductor paralysis
OrphaCode: 2808
DisorderType: Malformation syndrome
Name: Genetic tracheal anomaly
OrphaCode: 435612
DisorderType: Category
Children: Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Congenital tracheal stenosis
OrphaCode: 141127
DisorderType: Morphological anomaly
Name: Rare genetic cardiac disease
OrphaCode: 98054
DisorderType: Category
Children: Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: Genetic cardiac malformation
OrphaCode: 477805
DisorderType: Category
Children: Name: FLNA-related X-linked myxomatous valvular dysplasia
OrphaCode: 555877
DisorderType: Morphological anomaly
Name: Ebstein malformation of the tricuspid valve
OrphaCode: 1880
DisorderType: Morphological anomaly
Name: Common arterial trunk
OrphaCode: 3384
DisorderType: Morphological anomaly
Children: Name: Common arterial trunk with pulmonary dominance and interrupted aortic arch
OrphaCode: 665058
DisorderType: Clinical subtype
Name: Common arterial trunk with aortic dominance
OrphaCode: 665044
DisorderType: Clinical subtype
Name: Familial idiopathic dilatation of the right atrium
OrphaCode: 1677
DisorderType: Morphological anomaly
Name: Left ventricular noncompaction
OrphaCode: 54260
DisorderType: Disease
Name: Inherited arrhythmogenic cardiomyopathy
OrphaCode: 247
DisorderType: Clinical group
Children: Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Inherited isolated arrhythmogenic cardiomyopathy
OrphaCode: 217656
DisorderType: Disease
Children: Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
OrphaCode: 293888
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
OrphaCode: 293899
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
OrphaCode: 293910
DisorderType: Clinical subtype
Name: Rare familial disorder with hypertrophic cardiomyopathy
OrphaCode: 99739
DisorderType: Category
Children: Name: Glycogen storage disease with hypertrophic cardiomyopathy
OrphaCode: 217572
DisorderType: Category
Children: Name: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
OrphaCode: 439854
DisorderType: Disease
Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
OrphaCode: 137625
DisorderType: Disease
Name: Lysosomal disease with hypertrophic cardiomyopathy
OrphaCode: 217581
DisorderType: Category
Children: Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mitochondrial disease with hypertrophic cardiomyopathy
OrphaCode: 217587
DisorderType: Category
Children: Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Mitochondrial DNA-related cardiomyopathy and hearing loss
OrphaCode: 1349
DisorderType: Malformation syndrome
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
OrphaCode: 314637
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
OrphaCode: 352563
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 17
OrphaCode: 369913
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: QRSL1-related combined oxidative phosphorylation defect
OrphaCode: 570491
DisorderType: Disease
Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
OrphaCode: 217591
DisorderType: Category
Children: Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Carnitine-acylcarnitine translocase deficiency
OrphaCode: 159
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 26791
DisorderType: Disease
Children: Name: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
OrphaCode: 394529
DisorderType: Clinical subtype
Name: Multiple acyl-CoA dehydrogenase deficiency, mild type
OrphaCode: 394532
DisorderType: Clinical subtype
Name: Very long chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26793
DisorderType: Disease
Name: Acyl-CoA dehydrogenase 9 deficiency
OrphaCode: 99901
DisorderType: Disease
Name: Syndrome associated with hypertrophic cardiomyopathy
OrphaCode: 217595
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Cardiomyopathy-hypotonia-lactic acidosis syndrome
OrphaCode: 91130
DisorderType: Disease
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Genetic cardiac rhythm disease
OrphaCode: 101934
DisorderType: Category
Children: Name: Familial long QT syndrome
OrphaCode: 768
DisorderType: Clinical group
Children: Name: Timothy syndrome
OrphaCode: 65283
DisorderType: Malformation syndrome
Children: Name: Timothy syndrome type 1
OrphaCode: 595098
DisorderType: Clinical subtype
Name: Timothy syndrome type 2
OrphaCode: 595105
DisorderType: Clinical subtype
Name: Atypical Timothy syndrome
OrphaCode: 595109
DisorderType: Clinical subtype
Name: Jervell and Lange-Nielsen syndrome
OrphaCode: 90647
DisorderType: Disease
Name: Romano-Ward syndrome
OrphaCode: 101016
DisorderType: Disease
Name: Lown-Ganong-Levine syndrome
OrphaCode: 844
DisorderType: Disease
Name: Familial progressive cardiac conduction defect
OrphaCode: 871
DisorderType: Disease
Name: Atrial standstill
OrphaCode: 1344
DisorderType: Disease
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Atrial septal defect-atrioventricular conduction defects syndrome
OrphaCode: 1479
DisorderType: Malformation syndrome
Name: His bundle tachycardia
OrphaCode: 3283
DisorderType: Disease
Name: Catecholaminergic polymorphic ventricular tachycardia
OrphaCode: 3286
DisorderType: Disease
Name: Brugada syndrome
OrphaCode: 130
DisorderType: Disease
Name: Familial atrial fibrillation
OrphaCode: 334
DisorderType: Disease
Name: Familial short QT syndrome
OrphaCode: 51083
DisorderType: Disease
Name: Torsade-de-pointes syndrome with short coupling interval
OrphaCode: 51084
DisorderType: Disease
Name: Congenital heart block
OrphaCode: 60041
DisorderType: Disease
Name: Histiocytoid cardiomyopathy
OrphaCode: 137675
DisorderType: Disease
Name: Familial sick sinus syndrome
OrphaCode: 166282
DisorderType: Disease
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Idiopathic ventricular fibrillation, non Brugada type
OrphaCode: 228140
DisorderType: Disease
Name: Sinoatrial node dysfunction and deafness
OrphaCode: 324321
DisorderType: Disease
Name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
OrphaCode: 324410
DisorderType: Disease
Name: Chronic atrial and intestinal dysrhythmia syndrome
OrphaCode: 435988
DisorderType: Disease
Name: Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
OrphaCode: 436242
DisorderType: Disease
Name: Andersen-Tawil syndrome
OrphaCode: 37553
DisorderType: Disease
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
OrphaCode: 542306
DisorderType: Disease
Name: BVES-related limb-girdle muscular dystrophy
OrphaCode: 476084
DisorderType: Disease
Name: Rare syndrome with cardiac malformations
OrphaCode: 156532
DisorderType: Category
Children: Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Microcephaly-cardiac defect-lung malsegmentation syndrome
OrphaCode: 2516
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Atrial septal defect-atrioventricular conduction defects syndrome
OrphaCode: 1479
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: Cardiac anomalies-heterotaxy syndrome
OrphaCode: 137628
DisorderType: Malformation syndrome
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation with cardiac malformation as a major feature
OrphaCode: 371183
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Noonan syndrome and Noonan-related syndrome
OrphaCode: 98733
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Familial dilated cardiomyopathy
OrphaCode: 217607
DisorderType: Category
Children: Name: HEC syndrome
OrphaCode: 2119
DisorderType: Malformation syndrome
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Familial isolated dilated cardiomyopathy
OrphaCode: 154
DisorderType: Disease
Name: Neuromuscular disease with dilated cardiomyopathy
OrphaCode: 217610
DisorderType: Category
Children: Name: Duchenne and Becker muscular dystrophy
OrphaCode: 262
DisorderType: Clinical group
Children: Name: Becker muscular dystrophy
OrphaCode: 98895
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
OrphaCode: 206546
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
OrphaCode: 62
DisorderType: Disease
Name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OrphaCode: 119
DisorderType: Disease
Name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
OrphaCode: 353
DisorderType: Disease
Name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
OrphaCode: 219
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: Early-onset myopathy with fatal cardiomyopathy
OrphaCode: 289377
DisorderType: Disease
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Mitochondrial disease with dilated cardiomyopathy
OrphaCode: 217613
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Histiocytoid cardiomyopathy
OrphaCode: 137675
DisorderType: Disease
Name: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
OrphaCode: 217616
DisorderType: Category
Children: Name: Systemic primary carnitine deficiency
OrphaCode: 158
DisorderType: Disease
Name: Acyl-CoA dehydrogenase 9 deficiency
OrphaCode: 99901
DisorderType: Disease
Name: Syndrome associated with dilated cardiomyopathy
OrphaCode: 217619
DisorderType: Category
Children: Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Cardiomyopathy-cataract-hip spine disease syndrome
OrphaCode: 1345
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Dilated cardiomyopathy with ataxia
OrphaCode: 66634
DisorderType: Disease
Name: Kidney tubulopathy-dilated cardiomyopathy syndrome
OrphaCode: 73224
DisorderType: Disease
Name: Isobutyryl-CoA dehydrogenase deficiency
OrphaCode: 79159
DisorderType: Disease
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Sensorineural deafness with dilated cardiomyopathy
OrphaCode: 217622
DisorderType: Disease
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OrphaCode: 300751
DisorderType: Disease
Name: Congenital disorder of glycosylation with dilated cardiomyopathy
OrphaCode: 371176
DisorderType: Category
Children: Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Familial restrictive cardiomyopathy
OrphaCode: 217635
DisorderType: Category
Children: Name: HEC syndrome
OrphaCode: 2119
DisorderType: Malformation syndrome
Name: Atrial standstill
OrphaCode: 1344
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Familial isolated restrictive cardiomyopathy
OrphaCode: 75249
DisorderType: Disease
Name: Hereditary ATTR amyloidosis
OrphaCode: 271861
DisorderType: Disease
Children: Name: ATTRV30M amyloidosis
OrphaCode: 85447
DisorderType: Clinical subtype
Name: ATTRV122I amyloidosis
OrphaCode: 85451
DisorderType: Clinical subtype
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Lysosomal disease with restrictive cardiomyopathy
OrphaCode: 217638
DisorderType: Category
Children: Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: LMNA-related cardiocutaneous progeria syndrome
OrphaCode: 363618
DisorderType: Disease
Name: Rare genetic renal disease
OrphaCode: 98056
DisorderType: Category
Children: Name: Genetic cystic renal disease
OrphaCode: 93587
DisorderType: Category
Children: Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Adult familial nephronophthisis-spastic quadriparesia syndrome
OrphaCode: 2666
DisorderType: Disease
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
OrphaCode: 79118
DisorderType: Disease
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Karyomegalic interstitial nephritis
OrphaCode: 401996
DisorderType: Disease
Name: Ventriculomegaly-cystic kidney disease
OrphaCode: 443988
DisorderType: Disease
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Senior-Boichis syndrome
OrphaCode: 84081
DisorderType: Disease
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Autosomal dominant tubulointerstitial kidney disease
OrphaCode: 34149
DisorderType: Disease
Children: Name: MUC1-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88949
DisorderType: Clinical subtype
Name: UMOD-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88950
DisorderType: Clinical subtype
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: REN-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 217330
DisorderType: Clinical subtype
Name: Nephronophthisis
OrphaCode: 655
DisorderType: Disease
Children: Name: Late-onset nephronophthisis
OrphaCode: 93589
DisorderType: Clinical subtype
Name: Infantile nephronophthisis
OrphaCode: 93591
DisorderType: Clinical subtype
Name: Juvenile nephronophthisis
OrphaCode: 93592
DisorderType: Clinical subtype
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Nephropathy secondary to a storage or other metabolic disease
OrphaCode: 93593
DisorderType: Category
Children: Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Galactosemia
OrphaCode: 352
DisorderType: Category
Children: Name: Galactokinase deficiency
OrphaCode: 79237
DisorderType: Disease
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Galactose mutarotase deficiency
OrphaCode: 570422
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Porphyria
OrphaCode: 738
DisorderType: Clinical group
Children: Name: Erythropoietic porphyria
OrphaCode: 659681
DisorderType: Clinical group
Children: Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: X-linked erythropoietic protoporphyria
OrphaCode: 443197
DisorderType: Disease
Name: Erythropoietic uroporphyria associated with myeloid malignancy
OrphaCode: 280379
DisorderType: Disease
Name: Hepatoerythropoietic porphyria
OrphaCode: 95159
DisorderType: Disease
Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: Hereditary xanthinuria
OrphaCode: 3467
DisorderType: Disease
Children: Name: Xanthinuria type I
OrphaCode: 93601
DisorderType: Etiological subtype
Name: Xanthinuria type II
OrphaCode: 93602
DisorderType: Etiological subtype
Name: Adenine phosphoribosyltransferase deficiency
OrphaCode: 976
DisorderType: Disease
Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 3222
DisorderType: Disease
Children: Name: Mild phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411536
DisorderType: Clinical subtype
Name: Severe phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411543
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia
OrphaCode: 28
DisorderType: Disease
Children: Name: Vitamin B12-responsive methylmalonic acidemia type cblA
OrphaCode: 79310
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblB
OrphaCode: 79311
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
OrphaCode: 308442
DisorderType: Clinical subtype
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Primary hyperoxaluria
OrphaCode: 416
DisorderType: Disease
Children: Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 2
OrphaCode: 93599
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 3
OrphaCode: 93600
DisorderType: Clinical subtype
Name: Imerslund-Gräsbeck syndrome
OrphaCode: 35858
DisorderType: Disease
Name: Familial renal glucosuria
OrphaCode: 69076
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Juvenile cataract-microcornea-renal glucosuria syndrome
OrphaCode: 247794
DisorderType: Disease
Name: Autosomal recessive infantile hypercalcemia
OrphaCode: 300547
DisorderType: Disease
Name: Congenital disorder of glycosylation with nephropathy as a major feature
OrphaCode: 371207
DisorderType: Category
Children: Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: Hematological disorder with renal involvement
OrphaCode: 93614
DisorderType: Category
Children: Name: Alpha-thalassemia
OrphaCode: 846
DisorderType: Disease
Children: Name: Hemoglobin H disease
OrphaCode: 93616
DisorderType: Clinical subtype
Name: Hb Bart's hydrops fetalis
OrphaCode: 163596
DisorderType: Clinical subtype
Name: Beta-thalassemia
OrphaCode: 848
DisorderType: Disease
Children: Name: Beta-thalassemia major
OrphaCode: 231214
DisorderType: Clinical subtype
Name: Beta-thalassemia intermedia
OrphaCode: 231222
DisorderType: Clinical subtype
Name: Dominant beta-thalassemia
OrphaCode: 231226
DisorderType: Clinical subtype
Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Rare genetic cause of hypertension
OrphaCode: 156629
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Liddle syndrome
OrphaCode: 526
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Familial hyperthyroidism due to mutations in TSH receptor
OrphaCode: 424
DisorderType: Disease
Name: Pseudohypoaldosteronism type 2
OrphaCode: 757
DisorderType: Disease
Children: Name: Pseudohypoaldosteronism type 2A
OrphaCode: 88938
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2B
OrphaCode: 88939
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2C
OrphaCode: 88940
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2D
OrphaCode: 300525
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2E
OrphaCode: 300530
DisorderType: Etiological subtype
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Apparent mineralocorticoid excess
OrphaCode: 320
DisorderType: Disease
Name: Autosomal dominant progressive nephropathy with hypertension
OrphaCode: 88659
DisorderType: Disease
Name: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
OrphaCode: 88660
DisorderType: Disease
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Familial hyperaldosteronism
OrphaCode: 235936
DisorderType: Clinical group
Children: Name: Familial hyperaldosteronism type I
OrphaCode: 403
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Familial hyperaldosteronism type III
OrphaCode: 251274
DisorderType: Disease
Name: Familial hyperaldosteronism type IV
OrphaCode: 642671
DisorderType: Disease
Name: Genetic renal or urinary tract malformation
OrphaCode: 183539
DisorderType: Category
Children: Name: Syndromic renal or urinary tract malformation
OrphaCode: 93547
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Urofacial syndrome
OrphaCode: 2704
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Thyrocerebrorenal syndrome
OrphaCode: 3327
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Genetic non-syndromic renal or urinary tract malformation
OrphaCode: 357506
DisorderType: Category
Children: Name: Multicystic dysplastic kidney
OrphaCode: 1851
DisorderType: Morphological anomaly
Children: Name: Unilateral multicystic dysplastic kidney
OrphaCode: 97363
DisorderType: Clinical subtype
Name: Bilateral multicystic dysplastic kidney
OrphaCode: 97364
DisorderType: Clinical subtype
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Medullary sponge kidney
OrphaCode: 1309
DisorderType: Morphological anomaly
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Renal hypoplasia
OrphaCode: 93101
DisorderType: Morphological anomaly
Children: Name: Renal hypoplasia, unilateral
OrphaCode: 97361
DisorderType: Clinical subtype
Name: Renal hypoplasia, bilateral
OrphaCode: 97362
DisorderType: Clinical subtype
Name: Renal dysplasia
OrphaCode: 93108
DisorderType: Morphological anomaly
Children: Name: Renal dysplasia, unilateral
OrphaCode: 93172
DisorderType: Clinical subtype
Name: Renal dysplasia, bilateral
OrphaCode: 93173
DisorderType: Clinical subtype
Name: Renal tubular dysgenesis of genetic origin
OrphaCode: 97369
DisorderType: Etiological subtype
Name: Renal agenesis
OrphaCode: 411709
DisorderType: Morphological anomaly
Children: Name: Renal agenesis, bilateral
OrphaCode: 1848
DisorderType: Clinical subtype
Name: Renal agenesis, unilateral
OrphaCode: 93100
DisorderType: Clinical subtype
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Genetic glomerular disease
OrphaCode: 183586
DisorderType: Category
Children: Name: Genetic systemic disease with glomerulopathy as a major feature
OrphaCode: 567556
DisorderType: Category
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Hereditary amyloidosis with primary renal involvement
OrphaCode: 85450
DisorderType: Disease
Children: Name: AApoAI amyloidosis
OrphaCode: 93560
DisorderType: Clinical subtype
Name: ALys amyloidosis
OrphaCode: 93561
DisorderType: Clinical subtype
Name: AFib amyloidosis
OrphaCode: 93562
DisorderType: Clinical subtype
Name: AApoAII amyloidosis
OrphaCode: 238269
DisorderType: Clinical subtype
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Hypocomplementemic urticarial vasculitis
OrphaCode: 36412
DisorderType: Disease
Name: Disorder with multisystemic involvement and glomerulopathy
OrphaCode: 567562
DisorderType: Category
Children: Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Action myoclonus-renal failure syndrome
OrphaCode: 163696
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Nail-patella-like renal disease
OrphaCode: 2613
DisorderType: Disease
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
OrphaCode: 69063
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
OrphaCode: 93114
DisorderType: Disease
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: Fibronectin glomerulopathy
OrphaCode: 84090
DisorderType: Disease
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Primary membranoproliferative glomerulonephritis
OrphaCode: 54370
DisorderType: Disease
Children: Name: Immunoglobulin-mediated membranoproliferative glomerulonephritis
OrphaCode: 329903
DisorderType: Clinical subtype
Name: C3 glomerulopathy
OrphaCode: 329918
DisorderType: Clinical subtype
Children: Name: Dense deposit disease
OrphaCode: 93571
DisorderType: Histopathological subtype
Name: C3 glomerulonephritis
OrphaCode: 329931
DisorderType: Histopathological subtype
Name: Collagen-related glomerular basement membrane disease
OrphaCode: 544590
DisorderType: Category
Children: Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: HANAC syndrome
OrphaCode: 73229
DisorderType: Disease
Name: Genetic nephrotic syndrome
OrphaCode: 564127
DisorderType: Clinical group
Children: Name: Congenital nephrotic syndrome, Finnish type
OrphaCode: 839
DisorderType: Disease
Name: Genetic steroid-resistant nephrotic syndrome
OrphaCode: 656
DisorderType: Disease
Name: Genetic thrombotic microangiopathy
OrphaCode: 183589
DisorderType: Category
Children: Name: Congenital thrombotic thrombocytopenic purpura
OrphaCode: 93583
DisorderType: Clinical subtype
Name: Genetic hemolytic uremic syndrome
OrphaCode: 576742
DisorderType: Category
Children: Name: Atypical hemolytic uremic syndrome
OrphaCode: 2134
DisorderType: Disease
Children: Name: Atypical hemolytic uremic syndrome with complement gene abnormality
OrphaCode: 544472
DisorderType: Etiological subtype
Name: Atypical hemolytic uremic syndrome with anti-factor H antibodies
OrphaCode: 93581
DisorderType: Etiological subtype
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Hemolytic uremic syndrome with DGKE deficiency
OrphaCode: 357008
DisorderType: Disease
Name: Genetic renal tubular disease
OrphaCode: 183592
DisorderType: Category
Children: Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
OrphaCode: 528105
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
OrphaCode: 306516
DisorderType: Disease
Children: Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
OrphaCode: 31043
DisorderType: Clinical subtype
Name: Primary hypomagnesemia with secondary hypocalcemia
OrphaCode: 30924
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Cystinuria
OrphaCode: 214
DisorderType: Disease
Children: Name: Cystinuria type A
OrphaCode: 93612
DisorderType: Etiological subtype
Name: Cystinuria type B
OrphaCode: 93613
DisorderType: Etiological subtype
Name: Bartter syndrome
OrphaCode: 112
DisorderType: Disease
Children: Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Bartter syndrome type 3
OrphaCode: 93605
DisorderType: Clinical subtype
Name: Bartter syndrome type 5
OrphaCode: 570371
DisorderType: Clinical subtype
Name: Bartter syndrome type 1
OrphaCode: 620217
DisorderType: Clinical subtype
Name: Bartter syndrome type 2
OrphaCode: 620220
DisorderType: Clinical subtype
Name: Gitelman syndrome
OrphaCode: 358
DisorderType: Disease
Name: Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
OrphaCode: 3145
DisorderType: Disease
Name: Idiopathic hypercalciuria
OrphaCode: 2197
DisorderType: Disease
Name: Arginine vasopressin resistance
OrphaCode: 223
DisorderType: Disease
Name: Primary Fanconi renotubular syndrome
OrphaCode: 3337
DisorderType: Disease
Name: Pseudohypoaldosteronism type 1
OrphaCode: 756
DisorderType: Disease
Children: Name: Renal pseudohypoaldosteronism type 1
OrphaCode: 171871
DisorderType: Clinical subtype
Name: Generalized pseudohypoaldosteronism type 1
OrphaCode: 171876
DisorderType: Clinical subtype
Name: Autosomal dominant primary hypomagnesemia with hypocalciuria
OrphaCode: 34528
DisorderType: Disease
Name: Nephrogenic syndrome of inappropriate antidiuresis
OrphaCode: 93606
DisorderType: Disease
Name: Hereditary renal hypouricemia
OrphaCode: 94088
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Autosomal dominant tubulointerstitial kidney disease
OrphaCode: 34149
DisorderType: Disease
Children: Name: MUC1-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88949
DisorderType: Clinical subtype
Name: UMOD-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88950
DisorderType: Clinical subtype
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: REN-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 217330
DisorderType: Clinical subtype
Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: Primary renal tubular acidosis
OrphaCode: 314822
DisorderType: Clinical group
Children: Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Distal renal tubular acidosis
OrphaCode: 18
DisorderType: Disease
Children: Name: Autosomal dominant distal renal tubular acidosis
OrphaCode: 93608
DisorderType: Clinical subtype
Name: Distal renal tubular acidosis with anemia
OrphaCode: 93610
DisorderType: Clinical subtype
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Proximal renal tubular acidosis
OrphaCode: 47159
DisorderType: Disease
Children: Name: Autosomal recessive proximal renal tubular acidosis
OrphaCode: 93607
DisorderType: Clinical subtype
Name: Autosomal dominant proximal renal tubular acidosis
OrphaCode: 314889
DisorderType: Clinical subtype
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
OrphaCode: 363694
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Kidney tubulopathy-dilated cardiomyopathy syndrome
OrphaCode: 73224
DisorderType: Disease
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Isolated autosomal dominant hypomagnesemia, Glaudemans type
OrphaCode: 199326
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Cataract-nephropathy-encephalopathy syndrome
OrphaCode: 1380
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: EGF-related primary hypomagnesemia with intellectual disability
OrphaCode: 620368
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: FRAXF syndrome
OrphaCode: 100974
DisorderType: Disease
Name: Rare genetic eye disease
OrphaCode: 101435
DisorderType: Category
Children: Name: Rare genetic disorder of the visual organs
OrphaCode: 522504
DisorderType: Category
Children: Name: Structural developmental eye defect of genetic origin
OrphaCode: 522536
DisorderType: Category
Children: Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Microphthalmia-anophthalmia-coloboma
OrphaCode: 98555
DisorderType: Category
Children: Name: Isolated microphthalmia-anophthalmia-coloboma
OrphaCode: 2542
DisorderType: Clinical group
Children: Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia
OrphaCode: 98938
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia-anophthalmia-coloboma
OrphaCode: 202948
DisorderType: Category
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
OrphaCode: 251279
DisorderType: Disease
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia type 5
OrphaCode: 178364
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Oculoauricular syndrome, Schorderet type
OrphaCode: 157962
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Colobomatous macrophthalmia-microcornea syndrome
OrphaCode: 468672
DisorderType: Disease
Name: Rare genetic disorder of the anterior segment of the eye
OrphaCode: 522538
DisorderType: Category
Children: Name: Rare genetic corneal disorder
OrphaCode: 522556
DisorderType: Category
Children: Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Corneodysgenesis
OrphaCode: 98635
DisorderType: Category
Children: Name: Isolated congenital megalocornea
OrphaCode: 91489
DisorderType: Morphological anomaly
Name: Isolated congenital sclerocornea
OrphaCode: 91490
DisorderType: Morphological anomaly
Name: Rare genetic disorder with corneal involvement as a major feature
OrphaCode: 522558
DisorderType: Category
Children: Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Genetic corneal dystrophy
OrphaCode: 522560
DisorderType: Category
Children: Name: Genetic superficial corneal dystrophy
OrphaCode: 522562
DisorderType: Category
Children: Name: Subepithelial mucinous corneal dystrophy
OrphaCode: 98959
DisorderType: Disease
Name: Reis-Bücklers corneal dystrophy
OrphaCode: 98961
DisorderType: Disease
Name: Grayson-Wilbrandt corneal dystrophy
OrphaCode: 293375
DisorderType: Disease
Name: Meesmann corneal dystrophy
OrphaCode: 98954
DisorderType: Disease
Name: Lisch epithelial corneal dystrophy
OrphaCode: 98955
DisorderType: Disease
Name: Epithelial basement membrane dystrophy
OrphaCode: 98956
DisorderType: Disease
Name: Gelatinous drop-like corneal dystrophy
OrphaCode: 98957
DisorderType: Disease
Name: Thiel-Behnke corneal dystrophy
OrphaCode: 98960
DisorderType: Disease
Name: Epithelial recurrent erosion dystrophy
OrphaCode: 293381
DisorderType: Disease
Name: Hereditary benign intraepithelial dyskeratosis
OrphaCode: 352657
DisorderType: Disease
Name: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
OrphaCode: 352662
DisorderType: Disease
Name: Stromal corneal dystrophy
OrphaCode: 98626
DisorderType: Category
Children: Name: Central cloudy dystrophy of François
OrphaCode: 98972
DisorderType: Disease
Name: Granular corneal dystrophy type I
OrphaCode: 98962
DisorderType: Disease
Name: Granular corneal dystrophy type II
OrphaCode: 98963
DisorderType: Disease
Name: Lattice corneal dystrophy type I
OrphaCode: 98964
DisorderType: Disease
Name: Schnyder corneal dystrophy
OrphaCode: 98967
DisorderType: Disease
Name: Macular corneal dystrophy
OrphaCode: 98969
DisorderType: Disease
Name: Fleck corneal dystrophy
OrphaCode: 98970
DisorderType: Disease
Name: Posterior amorphous corneal dystrophy
OrphaCode: 98971
DisorderType: Disease
Name: Congenital stromal corneal dystrophy
OrphaCode: 101068
DisorderType: Disease
Name: Pre-Descemet corneal dystrophy
OrphaCode: 293462
DisorderType: Disease
Name: Posterior corneal dystrophy
OrphaCode: 98627
DisorderType: Category
Children: Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Fuchs endothelial corneal dystrophy
OrphaCode: 98974
DisorderType: Disease
Name: Congenital hereditary endothelial dystrophy type II
OrphaCode: 293603
DisorderType: Disease
Name: X-linked endothelial corneal dystrophy
OrphaCode: 293621
DisorderType: Disease
Name: Syndromic corneal dystrophy
OrphaCode: 98628
DisorderType: Category
Children: Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Recessive X-linked ichthyosis
OrphaCode: 461
DisorderType: Disease
Name: Corneal dystrophy-perceptive deafness syndrome
OrphaCode: 1490
DisorderType: Malformation syndrome
Name: X-linked corneal dermoid
OrphaCode: 1661
DisorderType: Disease
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Oculodental syndrome, Rutherfurd type
OrphaCode: 2709
DisorderType: Malformation syndrome
Name: Ophthalmomandibulomelic dysplasia
OrphaCode: 2741
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Dermochondrocorneal dystrophy
OrphaCode: 79149
DisorderType: Disease
Name: AGel amyloidosis
OrphaCode: 85448
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Syndromic genetic keratoconus
OrphaCode: 522564
DisorderType: Category
Children: Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: EDICT syndrome
OrphaCode: 293936
DisorderType: Disease
Name: Rare genetic inflammatory/autoimmune corneal disorder
OrphaCode: 522566
DisorderType: Category
Children: Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Autosomal dominant keratitis
OrphaCode: 2334
DisorderType: Disease
Name: Rare genetic disorder of the pupil
OrphaCode: 522568
DisorderType: Category
Children: Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Stormorken-Sjaastad-Langslet syndrome
OrphaCode: 3204
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Spastic ataxia with congenital miosis
OrphaCode: 1182
DisorderType: Disease
Name: X-linked corneal dermoid
OrphaCode: 1661
DisorderType: Disease
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Hirschsprung disease-ganglioneuroblastoma syndrome
OrphaCode: 2151
DisorderType: Malformation syndrome
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Unilateral ocular duplication
OrphaCode: 3374
DisorderType: Morphological anomaly
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Genetic lens and zonula anomaly
OrphaCode: 183607
DisorderType: Category
Children: Name: Lens shape anomaly
OrphaCode: 98655
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Congenital primary aphakia
OrphaCode: 83461
DisorderType: Malformation syndrome
Name: Rare genetic disorder with lens opacification
OrphaCode: 522546
DisorderType: Category
Children: Name: Early onset non-syndromic cataract
OrphaCode: 91492
DisorderType: Disease
Children: Name: Early-onset partial cataract
OrphaCode: 98992
DisorderType: Clinical subtype
Children: Name: Pulverulent cataract
OrphaCode: 98984
DisorderType: Clinical subtype
Name: Early-onset anterior polar cataract
OrphaCode: 98988
DisorderType: Clinical subtype
Name: Cerulean cataract
OrphaCode: 98989
DisorderType: Clinical subtype
Name: Coralliform cataract
OrphaCode: 98990
DisorderType: Clinical subtype
Name: Early-onset posterior polar cataract
OrphaCode: 98993
DisorderType: Clinical subtype
Name: Early-onset zonular cataract
OrphaCode: 98995
DisorderType: Clinical subtype
Children: Name: Early-onset sutural cataract
OrphaCode: 98985
DisorderType: Clinical subtype
Name: Early-onset nuclear cataract
OrphaCode: 98991
DisorderType: Clinical subtype
Name: Early-onset lamellar cataract
OrphaCode: 441452
DisorderType: Clinical subtype
Name: Early-onset posterior subcapsular cataract
OrphaCode: 441447
DisorderType: Clinical subtype
Name: Total early-onset cataract
OrphaCode: 98994
DisorderType: Clinical subtype
Name: Syndromic genetic cataract
OrphaCode: 522548
DisorderType: Category
Children: Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cardiomyopathy-cataract-hip spine disease syndrome
OrphaCode: 1345
DisorderType: Disease
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Infantile spasms-broad thumbs syndrome
OrphaCode: 3173
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Cochleosaccular degeneration-cataract syndrome
OrphaCode: 3233
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Siegler-Brewer-Carey syndrome
OrphaCode: 3167
DisorderType: Malformation syndrome
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Congenital cataract-anterior segment dysgenesis syndrome
OrphaCode: 162
DisorderType: Malformation syndrome
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Craniolenticulosutural dysplasia
OrphaCode: 50814
DisorderType: Malformation syndrome
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Persistent hyperplastic primary vitreous
OrphaCode: 91495
DisorderType: Disease
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Chromosomal anomaly with cataract
OrphaCode: 98642
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Monosomy 18p
OrphaCode: 1598
DisorderType: Disease
Name: 21q deletion syndrome
OrphaCode: 574
DisorderType: Malformation syndrome
Name: Distal duplication 2p
OrphaCode: 96070
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: Non-distal duplication 10q
OrphaCode: 1695
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Tetrasomy 5p
OrphaCode: 3309
DisorderType: Malformation syndrome
Name: 3q26 microduplication syndrome
OrphaCode: 96095
DisorderType: Malformation syndrome
Name: Monosomy 13q34
OrphaCode: 96168
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Distal duplication 10q
OrphaCode: 96102
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Metabolic disease with cataract
OrphaCode: 98644
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Galactosemia
OrphaCode: 352
DisorderType: Category
Children: Name: Galactokinase deficiency
OrphaCode: 79237
DisorderType: Disease
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Galactose mutarotase deficiency
OrphaCode: 570422
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Gyrate atrophy of choroid and retina
OrphaCode: 414
DisorderType: Disease
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: 3-methylglutaconic aciduria type 4
OrphaCode: 67048
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: Renal disease with cataract
OrphaCode: 98646
DisorderType: Category
Children: Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Foveal hypoplasia-presenile cataract syndrome
OrphaCode: 2253
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
OrphaCode: 521432
DisorderType: Disease
Name: Musculoskeletal disease with cataract
OrphaCode: 98648
DisorderType: Category
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Dentocutaneous disease with cataract
OrphaCode: 98649
DisorderType: Category
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Craniofacial anomaly with cataract
OrphaCode: 98650
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: Juvenile cataract-microcornea-renal glucosuria syndrome
OrphaCode: 247794
DisorderType: Disease
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: MRCS syndrome
OrphaCode: 263347
DisorderType: Disease
Name: Congenital cataract microcornea with corneal opacity
OrphaCode: 289499
DisorderType: Malformation syndrome
Name: Congenital cataract-hearing loss-severe developmental delay syndrome
OrphaCode: 300313
DisorderType: Disease
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 9A
OrphaCode: 447753
DisorderType: Disease
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Cataract-aberrant oral frenula-growth delay syndrome
OrphaCode: 1373
DisorderType: Malformation syndrome
Name: Hereditary hyperferritinemia-cataract syndrome
OrphaCode: 163
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Cataract-microcornea syndrome
OrphaCode: 1377
DisorderType: Malformation syndrome
Name: Cataract-nephropathy-encephalopathy syndrome
OrphaCode: 1380
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hydrocephaly-cerebellar agenesis syndrome
OrphaCode: 1397
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hereditary mucoepithelial dysplasia
OrphaCode: 1839
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OrphaCode: 1875
DisorderType: Disease
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Familial isolated hypoparathyroidism
OrphaCode: 2238
DisorderType: Disease
Children: Name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
OrphaCode: 2239
DisorderType: Clinical subtype
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Familial isolated hypoparathyroidism due to impaired PTH secretion
OrphaCode: 189466
DisorderType: Clinical subtype
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Lens size anomaly of genetic origin
OrphaCode: 522550
DisorderType: Category
Children: Name: Syndromic microspherophakia
OrphaCode: 519294
DisorderType: Category
Children: Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Lens position anomaly of genetic origin
OrphaCode: 522552
DisorderType: Category
Children: Name: Isolated ectopia lentis
OrphaCode: 1885
DisorderType: Malformation syndrome
Name: Syndromic genetic ectopia lentis
OrphaCode: 522554
DisorderType: Category
Children: Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
OrphaCode: 412022
DisorderType: Malformation syndrome
Name: Coloboma of eye lens
OrphaCode: 98943
DisorderType: Morphological anomaly
Name: Anterior segment developmental anomaly of genetic origin
OrphaCode: 522540
DisorderType: Category
Children: Name: Anterior segment developmental abnormality with extraocular manifestations
OrphaCode: 519276
DisorderType: Category
Children: Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Syndromic aniridia
OrphaCode: 98557
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Rare genetic disorder with conjunctival involvement as a major feature
OrphaCode: 522542
DisorderType: Category
Children: Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Hypoplasminogenemia
OrphaCode: 722
DisorderType: Disease
Name: Anterior segment developmental anomaly
OrphaCode: 88632
DisorderType: Category
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Genetic neuro-ophthalmological disease
OrphaCode: 183616
DisorderType: Category
Children: Name: Rare genetic ophthalmic disorder with cranial nerve involvement
OrphaCode: 522510
DisorderType: Category
Children: Name: Tolosa-Hunt syndrome
OrphaCode: 64686
DisorderType: Disease
Name: Rare oculomotor nerve disorder
OrphaCode: 98685
DisorderType: Category
Children: Name: Congenital oculomotor nerve palsy
OrphaCode: 440221
DisorderType: Disease
Name: Congenital trigeminal anesthesia
OrphaCode: 231013
DisorderType: Disease
Name: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
OrphaCode: 397618
DisorderType: Disease
Name: Congenital abducens nerve palsy
OrphaCode: 440233
DisorderType: Disease
Name: Rare genetic optic nerve disorder
OrphaCode: 522512
DisorderType: Category
Children: Name: Isolated optic nerve aplasia
OrphaCode: 637064
DisorderType: Morphological anomaly
Name: Hereditary optic neuropathy
OrphaCode: 98671
DisorderType: Category
Children: Name: Leber hereditary optic neuropathy
OrphaCode: 104
DisorderType: Disease
Name: Autosomal dominant optic atrophy
OrphaCode: 98672
DisorderType: Clinical group
Children: Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Autosomal dominant optic atrophy and cataract
OrphaCode: 67036
DisorderType: Disease
Name: Autosomal dominant optic atrophy, classic form
OrphaCode: 98673
DisorderType: Disease
Name: Autosomal dominant optic atrophy and peripheral neuropathy
OrphaCode: 250932
DisorderType: Disease
Name: Autosomal recessive isolated optic atrophy
OrphaCode: 98676
DisorderType: Disease
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Syndromic hereditary optic neuropathy
OrphaCode: 441434
DisorderType: Category
Children: Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
OrphaCode: 482606
DisorderType: Malformation syndrome
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 3
OrphaCode: 67047
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Early-onset X-linked optic atrophy
OrphaCode: 98890
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
OrphaCode: 352654
DisorderType: Disease
Name: Short stature-optic atrophy-Pelger-Huët anomaly syndrome
OrphaCode: 391677
DisorderType: Malformation syndrome
Name: Optic atrophy-intellectual disability syndrome
OrphaCode: 401777
DisorderType: Disease
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
OrphaCode: 431320
DisorderType: Clinical group
Children: Name: Spastic paraplegia-optic atrophy-neuropathy syndrome
OrphaCode: 320406
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 57
OrphaCode: 431329
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 74
OrphaCode: 468661
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
DisorderType: Clinical subtype
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 495844
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: Autosomal recessive optic atrophy, OPA7 type
OrphaCode: 227976
DisorderType: Disease
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Syndromic optic nerve hypoplasia
OrphaCode: 137905
DisorderType: Category
Children: Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Congenital optic disc excavation of genetic origin
OrphaCode: 522514
DisorderType: Category
Children: Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Coloboma of optic disc
OrphaCode: 98947
DisorderType: Morphological anomaly
Name: Familial cavitary optic disc anomaly
OrphaCode: 464760
DisorderType: Morphological anomaly
Name: Disorder with optic nerve compression
OrphaCode: 519337
DisorderType: Category
Children: Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Pseudopapilledema
OrphaCode: 519339
DisorderType: Category
Children: Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
OrphaCode: 313800
DisorderType: Disease
Name: Rare disorder with optic disc malformation
OrphaCode: 519345
DisorderType: Category
Children: Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
OrphaCode: 435930
DisorderType: Disease
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Isolated optic nerve hypoplasia
OrphaCode: 637061
DisorderType: Morphological anomaly
Name: Rare trochlear nerve disorder
OrphaCode: 519353
DisorderType: Category
Children: Name: Familial congenital palsy of trochlear nerve
OrphaCode: 91498
DisorderType: Disease
Name: Congenital trochlear nerve palsy
OrphaCode: 98686
DisorderType: Disease
Name: Rare genetic ophthalmic disorder with cortical involvement
OrphaCode: 522508
DisorderType: Category
Children: Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Oculomotor apraxia
OrphaCode: 98688
DisorderType: Category
Children: Name: Ocular motor apraxia, Cogan type
OrphaCode: 1125
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OrphaCode: 2072
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: Rare genetic ocular motility/alignment disorder
OrphaCode: 522516
DisorderType: Category
Children: Name: Rare genetic disorder with strabismus
OrphaCode: 522518
DisorderType: Category
Children: Name: Syndromic genetic disorder with strabismus
OrphaCode: 522520
DisorderType: Category
Children: Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Non-distal deletion 10q
OrphaCode: 1581
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Infantile choroidocerebral calcification syndrome
OrphaCode: 1313
DisorderType: Disease
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: Progeroid syndrome, Petty type
OrphaCode: 2963
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency
OrphaCode: 2968
DisorderType: Disease
Children: Name: Leukocyte adhesion deficiency type I
OrphaCode: 99842
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Monosomy 9q22.3
OrphaCode: 77301
DisorderType: Malformation syndrome
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Craniostenosis with strabismus
OrphaCode: 98684
DisorderType: Category
Children: Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: 8q12 microduplication syndrome
OrphaCode: 228399
DisorderType: Malformation syndrome
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
OrphaCode: 522522
DisorderType: Category
Children: Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
OrphaCode: 363677
DisorderType: Disease
Name: Progressive external ophthalmoplegia
OrphaCode: 520820
DisorderType: Category
Children: Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Autosomal recessive progressive external ophthalmoplegia
OrphaCode: 254886
DisorderType: Disease
Name: Autosomal dominant progressive external ophthalmoplegia
OrphaCode: 254892
DisorderType: Disease
Name: Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
OrphaCode: 522506
DisorderType: Category
Children: Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: Supranuclear eye movement disorder
OrphaCode: 98687
DisorderType: Category
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Rare genetic disorder of the ocular adnexa
OrphaCode: 522524
DisorderType: Category
Children: Name: Rare genetic disorder of the lacrimal apparatus
OrphaCode: 522532
DisorderType: Category
Children: Name: Congenital alacrima
OrphaCode: 98604
DisorderType: Category
Children: Name: Aplasia of lacrimal and salivary glands
OrphaCode: 86815
DisorderType: Disease
Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Isolated congenital alacrima
OrphaCode: 91416
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Intellectual disability-alacrima-achalasia syndrome
OrphaCode: 289483
DisorderType: Disease
Name: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
OrphaCode: 528105
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Lacrimal drainage system anomaly of genetic origin
OrphaCode: 522534
DisorderType: Category
Children: Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Syndromic lacrimal system disorder
OrphaCode: 519274
DisorderType: Category
Children: Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Syndromic orbital border hypoplasia
OrphaCode: 98606
DisorderType: Malformation syndrome
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Rare eyebrow/eyelash disorder
OrphaCode: 98594
DisorderType: Category
Children: Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Isolated distichiasis
OrphaCode: 99177
DisorderType: Morphological anomaly
Name: Rare genetic palpebral disorder
OrphaCode: 522526
DisorderType: Category
Children: Name: Congenital malformation of the eyelid
OrphaCode: 98561
DisorderType: Category
Children: Name: Cryptophthalmia
OrphaCode: 98562
DisorderType: Category
Children: Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Isolated cryptophthalmia
OrphaCode: 91396
DisorderType: Morphological anomaly
Children: Name: Congenital symblepharon
OrphaCode: 98948
DisorderType: Clinical subtype
Name: Complete cryptophthalmia
OrphaCode: 98949
DisorderType: Clinical subtype
Name: Partial cryptophthalmia
OrphaCode: 98950
DisorderType: Clinical subtype
Name: Microblepharon-ablephara syndrome
OrphaCode: 98563
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Eyelid border anomaly
OrphaCode: 98564
DisorderType: Category
Children: Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Syndromic ankyloblepharon filiforme adnatum
OrphaCode: 98565
DisorderType: Category
Children: Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Syndromic eyelid coloboma
OrphaCode: 98566
DisorderType: Category
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Coloboma of eyelid
OrphaCode: 98946
DisorderType: Morphological anomaly
Name: Congenital eyelid retraction
OrphaCode: 99176
DisorderType: Morphological anomaly
Name: Rare genetic eyelid malposition disorder
OrphaCode: 522528
DisorderType: Category
Children: Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Syndromic epicanthus
OrphaCode: 98574
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Syndromic telecanthus
OrphaCode: 98575
DisorderType: Category
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Syndromic outer canthal malposition
OrphaCode: 98576
DisorderType: Category
Children: Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Rare disorder with ptosis
OrphaCode: 98578
DisorderType: Category
Children: Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Ptosis-vocal cord paralysis syndrome
OrphaCode: 2997
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Congenital ptosis
OrphaCode: 91411
DisorderType: Disease
Name: Marcus-Gunn syndrome
OrphaCode: 91412
DisorderType: Disease
Children: Name: Inverse Marcus-Gunn phenomenon
OrphaCode: 98951
DisorderType: Clinical subtype
Name: Marin-Amat syndrome
OrphaCode: 101104
DisorderType: Clinical subtype
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Epiblepharon
OrphaCode: 99169
DisorderType: Morphological anomaly
Name: Euryblepharon
OrphaCode: 99172
DisorderType: Morphological anomaly
Name: Rare disorder with ectropion
OrphaCode: 519268
DisorderType: Category
Children: Name: Secondary ectropion
OrphaCode: 98571
DisorderType: Category
Children: Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Congenital ectropion
OrphaCode: 98570
DisorderType: Category
Children: Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Isolated congenital ectropion
OrphaCode: 99171
DisorderType: Morphological anomaly
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Rare genetic disorder with entropion
OrphaCode: 522530
DisorderType: Category
Children: Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Tarsal kink syndrome
OrphaCode: 99170
DisorderType: Morphological anomaly
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Rare disorder with pigmented sclera
OrphaCode: 519296
DisorderType: Category
Children: Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Braddock syndrome
OrphaCode: 52047
DisorderType: Malformation syndrome
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Alkaptonuria
OrphaCode: 56
DisorderType: Disease
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Rare genetic disorder of the posterior segment of the eye
OrphaCode: 522570
DisorderType: Category
Children: Name: Coloboma of choroid and retina
OrphaCode: 98942
DisorderType: Morphological anomaly
Name: Rare genetic choroidal disorder
OrphaCode: 522584
DisorderType: Category
Children: Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Isolated chorioretinal dystrophy
OrphaCode: 519300
DisorderType: Category
Children: Name: Sorsby pseudoinflammatory fundus dystrophy
OrphaCode: 59181
DisorderType: Disease
Name: Choroideremia
OrphaCode: 180
DisorderType: Disease
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Bietti crystalline dystrophy
OrphaCode: 41751
DisorderType: Disease
Name: Helicoid peripapillary chorioretinal degeneration
OrphaCode: 86813
DisorderType: Disease
Name: Progressive bifocal chorioretinal atrophy
OrphaCode: 75373
DisorderType: Disease
Name: Central areolar choroidal dystrophy
OrphaCode: 75377
DisorderType: Disease
Name: Pigmented paravenous retinochoroidal atrophy
OrphaCode: 251295
DisorderType: Disease
Name: Central serous chorioretinopathy
OrphaCode: 443079
DisorderType: Disease
Name: Syndromic chorioretinal dystrophy
OrphaCode: 519321
DisorderType: Category
Children: Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
OrphaCode: 369970
DisorderType: Disease
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Rare genetic retinal disorder
OrphaCode: 522572
DisorderType: Category
Children: Name: X-linked retinal dysplasia
OrphaCode: 1852
DisorderType: Disease
Name: Inherited retinal disorder
OrphaCode: 71862
DisorderType: Category
Children: Name: Syndromic inherited retinal disorder
OrphaCode: 519325
DisorderType: Category
Children: Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Amaurosis-hypertrichosis syndrome
OrphaCode: 1021
DisorderType: Disease
Name: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: Jalili syndrome
OrphaCode: 1873
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-tapetoretinal degeneration syndrome
OrphaCode: 2246
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Revesz syndrome
OrphaCode: 3088
DisorderType: Malformation syndrome
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Snowflake vitreoretinal degeneration
OrphaCode: 91496
DisorderType: Disease
Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Syndromic rod-cone dystrophy
OrphaCode: 98661
DisorderType: Category
Children: Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Primary ciliary dyskinesia-retinitis pigmentosa syndrome
OrphaCode: 247522
DisorderType: Disease
Name: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
OrphaCode: 314572
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
OrphaCode: 436274
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
OrphaCode: 2579
DisorderType: Disease
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
OrphaCode: 3011
DisorderType: Disease
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: MRCS syndrome
OrphaCode: 263347
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Retinal degeneration-nanophthalmos-glaucoma syndrome
OrphaCode: 1574
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: AICA-ribosiduria
OrphaCode: 250977
DisorderType: Disease
Name: Sialidosis
OrphaCode: 309294
DisorderType: Clinical group
Children: Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
OrphaCode: 313800
DisorderType: Disease
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Progressive retinal dystrophy due to retinol transport defect
OrphaCode: 352718
DisorderType: Disease
Name: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
OrphaCode: 397758
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: Martinique crinkled retinal pigment epitheliopathy
OrphaCode: 466718
DisorderType: Disease
Name: Syndromic macular dystrophy
OrphaCode: 519323
DisorderType: Category
Children: Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Coloboma of macula-brachydactyly type B syndrome
OrphaCode: 1471
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: KLHL7-related Crisponi/cold-induced sweating-like syndrome
OrphaCode: 603694
DisorderType: Disease
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Isolated inherited retinal disorder
OrphaCode: 520817
DisorderType: Category
Children: Name: Isolated progressive inherited retinal disorder
OrphaCode: 519306
DisorderType: Category
Children: Name: Goldmann-Favre syndrome
OrphaCode: 53540
DisorderType: Disease
Name: Late-onset retinal degeneration
OrphaCode: 67042
DisorderType: Disease
Name: Severe early-childhood-onset retinal dystrophy
OrphaCode: 364055
DisorderType: Disease
Name: Bothnia retinal dystrophy
OrphaCode: 85128
DisorderType: Disease
Name: Åland Islands eye disease
OrphaCode: 178333
DisorderType: Disease
Name: Cone dystrophy with supernormal rod response
OrphaCode: 209932
DisorderType: Disease
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Progressive cone dystrophy
OrphaCode: 1871
DisorderType: Disease
Name: Cone rod dystrophy
OrphaCode: 1872
DisorderType: Disease
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Autosomal recessive bestrophinopathy
OrphaCode: 139455
DisorderType: Disease
Name: Isolated macular dystrophy
OrphaCode: 519302
DisorderType: Category
Children: Name: Best vitelliform macular dystrophy
OrphaCode: 1243
DisorderType: Disease
Name: Stargardt disease
OrphaCode: 827
DisorderType: Disease
Name: Sorsby pseudoinflammatory fundus dystrophy
OrphaCode: 59181
DisorderType: Disease
Name: Pattern dystrophy
OrphaCode: 63454
DisorderType: Category
Children: Name: Adult-onset foveomacular vitelliform dystrophy
OrphaCode: 99000
DisorderType: Disease
Name: Butterfly-shaped pigment dystrophy
OrphaCode: 99001
DisorderType: Disease
Name: Reticular dystrophy of the retinal pigment epithelium
OrphaCode: 99002
DisorderType: Disease
Name: Multifocal pattern dystrophy simulating fundus flavimaculatus
OrphaCode: 99003
DisorderType: Disease
Name: Fundus pulverulentus
OrphaCode: 99004
DisorderType: Disease
Name: North Carolina macular dystrophy
OrphaCode: 75327
DisorderType: Disease
Name: Central areolar choroidal dystrophy
OrphaCode: 75377
DisorderType: Disease
Name: Cystoid macular dystrophy
OrphaCode: 75381
DisorderType: Disease
Name: Occult macular dystrophy
OrphaCode: 247834
DisorderType: Disease
Name: Benign concentric annular macular dystrophy
OrphaCode: 251287
DisorderType: Disease
Name: Retinal macular dystrophy type 2
OrphaCode: 319640
DisorderType: Disease
Name: Cone rod dystrophy-short stature syndrome
OrphaCode: 653709
DisorderType: Disease
Name: Retinitis punctata albescens
OrphaCode: 52427
DisorderType: Disease
Name: Isolated stationary inherited retinal disorder
OrphaCode: 519319
DisorderType: Category
Children: Name: Bietti crystalline dystrophy
OrphaCode: 41751
DisorderType: Disease
Name: Achromatopsia
OrphaCode: 49382
DisorderType: Disease
Name: Oligocone trichromacy
OrphaCode: 75378
DisorderType: Disease
Name: X-linked cone dysfunction syndrome with myopia
OrphaCode: 90001
DisorderType: Disease
Name: Kandori fleck retina
OrphaCode: 99179
DisorderType: Malformation syndrome
Name: Blue cone monochromatism
OrphaCode: 16
DisorderType: Disease
Name: Congenital stationary night blindness
OrphaCode: 215
DisorderType: Disease
Name: Familial drusen
OrphaCode: 75376
DisorderType: Disease
Name: Familial benign flecked retina
OrphaCode: 363989
DisorderType: Disease
Name: Stargardt disease
OrphaCode: 827
DisorderType: Disease
Name: Oguchi disease
OrphaCode: 75382
DisorderType: Malformation syndrome
Name: Fundus albipunctatus
OrphaCode: 227796
DisorderType: Disease
Name: Bradyopsia
OrphaCode: 75374
DisorderType: Disease
Name: Autosomal dominant rhegmatogenous retinal detachment
OrphaCode: 209867
DisorderType: Disease
Name: Rare genetic macular disorder
OrphaCode: 522574
DisorderType: Category
Children: Name: Persistent placoid maculopathy
OrphaCode: 97341
DisorderType: Disease
Name: Coloboma of macula
OrphaCode: 98945
DisorderType: Morphological anomaly
Name: Rare genetic retinal vasculopathy
OrphaCode: 522576
DisorderType: Category
Children: Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Eales disease
OrphaCode: 40923
DisorderType: Disease
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: IRVAN syndrome
OrphaCode: 209943
DisorderType: Disease
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
OrphaCode: 247691
DisorderType: Disease
Name: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Coats plus syndrome
OrphaCode: 313838
DisorderType: Disease
Name: Autosomal dominant neovascular inflammatory vitreoretinopathy
OrphaCode: 329211
DisorderType: Disease
Name: Congenital retinal arteriovenous communication
OrphaCode: 353334
DisorderType: Morphological anomaly
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Susac syndrome
OrphaCode: 838
DisorderType: Disease
Name: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
OrphaCode: 575553
DisorderType: Disease
Name: Vitreoretinopathy
OrphaCode: 98668
DisorderType: Category
Children: Name: Isolated vitreoretinopathy
OrphaCode: 519304
DisorderType: Category
Children: Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Autosomal dominant neovascular inflammatory vitreoretinopathy
OrphaCode: 329211
DisorderType: Disease
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Wagner disease
OrphaCode: 898
DisorderType: Disease
Name: Goldmann-Favre syndrome
OrphaCode: 53540
DisorderType: Disease
Name: Persistent hyperplastic primary vitreous
OrphaCode: 91495
DisorderType: Disease
Name: Snowflake vitreoretinal degeneration
OrphaCode: 91496
DisorderType: Disease
Name: Syndromic vitreoretinopathy
OrphaCode: 519327
DisorderType: Category
Children: Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Coats plus syndrome
OrphaCode: 313838
DisorderType: Disease
Name: Rare genetic disorder involving multiple structures of the eye
OrphaCode: 522578
DisorderType: Category
Children: Name: Pediatric-onset glaucoma of genetic origin
OrphaCode: 359
DisorderType: Category
Children: Name: Primary early-onset glaucoma
OrphaCode: 156005
DisorderType: Clinical group
Children: Name: Congenital glaucoma
OrphaCode: 98976
DisorderType: Disease
Name: Juvenile glaucoma
OrphaCode: 98977
DisorderType: Disease
Name: Secondary early-onset glaucoma of genetic origin
OrphaCode: 522580
DisorderType: Category
Children: Name: Genetic congenital malformation of the eye with glaucoma as a major feature
OrphaCode: 525677
DisorderType: Category
Children: Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Iridocorneal endothelial syndrome
OrphaCode: 64734
DisorderType: Disease
Children: Name: Chandler syndrome
OrphaCode: 98979
DisorderType: Clinical subtype
Name: Cogan-Reese syndrome
OrphaCode: 98980
DisorderType: Clinical subtype
Name: Essential iris atrophy
OrphaCode: 98981
DisorderType: Clinical subtype
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
OrphaCode: 238763
DisorderType: Malformation syndrome
Name: Rare disease with glaucoma as a major feature
OrphaCode: 98638
DisorderType: Category
Children: Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Microcornea-glaucoma-absent frontal sinuses syndrome
OrphaCode: 2536
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Glaucoma-sleep apnea syndrome
OrphaCode: 2085
DisorderType: Disease
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Oculocutaneous or ocular albinism
OrphaCode: 98706
DisorderType: Category
Children: Name: Oculocutaneous albinism
OrphaCode: 55
DisorderType: Clinical group
Children: Name: Oculocutaneous albinism type 2
OrphaCode: 79432
DisorderType: Disease
Name: Oculocutaneous albinism type 3
OrphaCode: 79433
DisorderType: Disease
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Oculocutaneous albinism type 1
OrphaCode: 352731
DisorderType: Disease
Children: Name: Oculocutaneous albinism type 1A
OrphaCode: 79431
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Minimal pigment oculocutaneous albinism type 1
OrphaCode: 352734
DisorderType: Clinical subtype
Name: Temperature-sensitive oculocutaneous albinism type 1
OrphaCode: 352737
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 7
OrphaCode: 352745
DisorderType: Disease
Name: Oculocutaneous albinism type 5
OrphaCode: 370091
DisorderType: Disease
Name: Oculocutaneous albinism type 6
OrphaCode: 370097
DisorderType: Disease
Name: Oculocutaneous albinism type 8
OrphaCode: 597733
DisorderType: Disease
Name: Ocular albinism
OrphaCode: 284804
DisorderType: Clinical group
Children: Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: X-linked recessive ocular albinism
OrphaCode: 54
DisorderType: Disease
Name: Syndromic oculocutaneous albinism
OrphaCode: 284811
DisorderType: Category
Children: Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome
OrphaCode: 381
DisorderType: Disease
Children: Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Griscelli syndrome type 3
OrphaCode: 79478
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
OrphaCode: 617449
DisorderType: Disease
Name: Rare refraction anomaly
OrphaCode: 98618
DisorderType: Category
Children: Name: Rare isolated myopia
OrphaCode: 98619
DisorderType: Disease
Name: Rare hyperopia and astigmatism
OrphaCode: 98621
DisorderType: Category
Children: Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Syndromic hyperopia
OrphaCode: 98622
DisorderType: Category
Children: Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Color-vision disease
OrphaCode: 98658
DisorderType: Category
Children: Name: Blue cone monochromatism
OrphaCode: 16
DisorderType: Disease
Name: Achromatopsia
OrphaCode: 49382
DisorderType: Disease
Name: Tritanopia
OrphaCode: 88629
DisorderType: Disease
Name: Genetic eye tumor
OrphaCode: 183619
DisorderType: Category
Children: Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Ring dermoid of cornea
OrphaCode: 91481
DisorderType: Disease
Name: Inherited cancer-predisposing syndrome
OrphaCode: 140162
DisorderType: Category
Children: Name: Melanoma and neural system tumor syndrome
OrphaCode: 252206
DisorderType: Disease
Name: Rhabdoid tumor predisposition syndrome
OrphaCode: 231108
DisorderType: Disease
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: Common variable immunodeficiency
OrphaCode: 1572
DisorderType: Disease
Name: Kostmann syndrome
OrphaCode: 99749
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Polymalformative genetic syndrome with increased risk of developing cancer
OrphaCode: 183422
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Bazex syndrome
OrphaCode: 166113
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Warsaw breakage syndrome
OrphaCode: 280558
DisorderType: Malformation syndrome
Name: Oligodontia-cancer predisposition syndrome
OrphaCode: 300576
DisorderType: Disease
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Cernunnos-XLF deficiency
OrphaCode: 169079
DisorderType: Disease
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Familial multinodular goiter
OrphaCode: 276399
DisorderType: Disease
Name: BAP1-related tumor predisposition syndrome
OrphaCode: 289539
DisorderType: Disease
Name: MITF-related melanoma and renal cell carcinoma predisposition syndrome
OrphaCode: 293822
DisorderType: Disease
Name: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
OrphaCode: 313846
DisorderType: Disease
Name: Inherited renal cancer-predisposing syndrome
OrphaCode: 319328
DisorderType: Category
Children: Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Hereditary papillary renal cell carcinoma
OrphaCode: 47044
DisorderType: Disease
Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
OrphaCode: 319462
DisorderType: Disease
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Hereditary clear cell renal cell carcinoma
OrphaCode: 422526
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Familial atypical multiple mole melanoma syndrome
OrphaCode: 404560
DisorderType: Disease
Name: Inherited digestive cancer-predisposing syndrome
OrphaCode: 425003
DisorderType: Category
Children: Name: Familial medullary thyroid carcinoma
OrphaCode: 99361
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Intestinal polyposis syndrome
OrphaCode: 104010
DisorderType: Clinical group
Children: Name: Hereditary mixed polyposis syndrome
OrphaCode: 157794
DisorderType: Disease
Name: Serrated polyposis syndrome
OrphaCode: 157798
DisorderType: Disease
Name: Attenuated familial adenomatous polyposis
OrphaCode: 220460
DisorderType: Disease
Children: Name: MUTYH-related attenuated familial adenomatous polyposis
OrphaCode: 247798
DisorderType: Clinical subtype
Name: APC-related attenuated familial adenomatous polyposis
OrphaCode: 247806
DisorderType: Clinical subtype
Name: AXIN2-related attenuated familial adenomatous polyposis
OrphaCode: 401911
DisorderType: Clinical subtype
Name: MSH3-related attenuated familial adenomatous polyposis
OrphaCode: 480536
DisorderType: Clinical subtype
Name: Polymerase proofreading-related adenomatous polyposis
OrphaCode: 447877
DisorderType: Clinical subtype
Name: NTHL1-related attenuated familial adenomatous polyposis
OrphaCode: 454840
DisorderType: Clinical subtype
Name: Familial adenomatous polyposis
OrphaCode: 733
DisorderType: Disease
Children: Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Juvenile polyposis syndrome
OrphaCode: 2929
DisorderType: Disease
Children: Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Generalized juvenile polyposis/juvenile polyposis coli
OrphaCode: 329971
DisorderType: Clinical subtype
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Cronkhite-Canada syndrome
OrphaCode: 2930
DisorderType: Disease
Name: Hereditary neuroendocrine tumor of small intestine
OrphaCode: 456333
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Hereditary nonpolyposis colon cancer
OrphaCode: 443909
DisorderType: Clinical group
Children: Name: Lynch syndrome
OrphaCode: 144
DisorderType: Disease
Name: Familial colorectal cancer Type X
OrphaCode: 440437
DisorderType: Disease
Name: Combined immunodeficiency due to OX40 deficiency
OrphaCode: 431149
DisorderType: Disease
Name: Progeroid features-hepatocellular carcinoma predisposition syndrome
OrphaCode: 435953
DisorderType: Disease
Name: DICER1 tumor-predisposition syndrome
OrphaCode: 284343
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Palmoplantar keratoderma-esophageal carcinoma syndrome
OrphaCode: 2198
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: MBD4-related tumor predisposition syndrome
OrphaCode: 661526
DisorderType: Disease
Name: Inherited cancer-predisposing lymphoproliferative syndrome
OrphaCode: 664450
DisorderType: Category
Children: Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to SAP deficiency
OrphaCode: 538931
DisorderType: Disease
Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: FADD-related immunodeficiency
OrphaCode: 306550
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: Dianzani autoimmune lymphoproliferative disease
OrphaCode: 275523
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to PRKCD deficiency
OrphaCode: 664711
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
OrphaCode: 664699
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to CD137 deficiency
OrphaCode: 664726
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to TET2 deficiency
OrphaCode: 664729
DisorderType: Disease
Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: Neurofibromatosis/schwannomatosis
OrphaCode: 634518
DisorderType: Category
Children: Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Mosaic neurofibromatosis type 1
OrphaCode: 634461
DisorderType: Disease
Name: Mosaic NF2-related schwannomatosis
OrphaCode: 634475
DisorderType: Disease
Name: Mosaic schwannomatosis
OrphaCode: 634492
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Inherited gynecological cancer-predisposing syndrome
OrphaCode: 589746
DisorderType: Category
Children: Name: Hereditary nonpolyposis colon cancer
OrphaCode: 443909
DisorderType: Clinical group
Children: Name: Lynch syndrome
OrphaCode: 144
DisorderType: Disease
Name: Familial colorectal cancer Type X
OrphaCode: 440437
DisorderType: Disease
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Hereditary leiomyomatosis and renal cell cancer
OrphaCode: 523
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Inherited hematologic cancer-predisposing syndrome
OrphaCode: 619340
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Familial platelet disorder with associated myeloid malignancy
OrphaCode: 71290
DisorderType: Disease
Name: Inherited acute myeloid leukemia
OrphaCode: 319465
DisorderType: Disease
Name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
OrphaCode: 585877
DisorderType: Etiological subtype
Children: Name: B-lymphoblastic leukemia/lymphoma with t(17;19)
OrphaCode: 641375
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
OrphaCode: 585909
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
OrphaCode: 585918
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
OrphaCode: 585929
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
OrphaCode: 585936
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
OrphaCode: 585942
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
OrphaCode: 585948
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
OrphaCode: 585956
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
OrphaCode: 641372
DisorderType: Etiological subtype
Name: Li-Fraumeni syndrome
OrphaCode: 524
DisorderType: Disease
Name: DDX41-related hematologic malignancy predisposition syndrome
OrphaCode: 488647
DisorderType: Disease
Name: Rare genetic hepatic disease
OrphaCode: 156601
DisorderType: Category
Children: Name: Transient familial neonatal hyperbilirubinemia
OrphaCode: 2312
DisorderType: Disease
Name: Hepatic veno-occlusive disease-immunodeficiency syndrome
OrphaCode: 79124
DisorderType: Disease
Name: Rare metabolic liver disease
OrphaCode: 101940
DisorderType: Category
Children: Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to liver glycogen phosphorylase deficiency
OrphaCode: 369
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Crigler-Najjar syndrome
OrphaCode: 205
DisorderType: Disease
Children: Name: Crigler-Najjar syndrome type 1
OrphaCode: 79234
DisorderType: Clinical subtype
Name: Crigler-Najjar syndrome type 2
OrphaCode: 79235
DisorderType: Clinical subtype
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Neonatal hemochromatosis
OrphaCode: 446
DisorderType: Disease
Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Dubin-Johnson syndrome
OrphaCode: 234
DisorderType: Disease
Name: Rotor syndrome
OrphaCode: 3111
DisorderType: Disease
Name: Steroid dehydrogenase deficiency-dental anomalies syndrome
OrphaCode: 3196
DisorderType: Disease
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Fanconi-Bickel syndrome
OrphaCode: 2088
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OrphaCode: 79240
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form
OrphaCode: 254871
DisorderType: Clinical group
Children: Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Navajo neurohepatopathy
OrphaCode: 255229
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
OrphaCode: 279934
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
OrphaCode: 137681
DisorderType: Disease
Name: Dietary iron overload disease
OrphaCode: 139507
DisorderType: Disease
Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OrphaCode: 217371
DisorderType: Disease
Name: Rare hereditary hemochromatosis
OrphaCode: 220489
DisorderType: Category
Children: Name: Symptomatic form of HFE-related hemochromatosis
OrphaCode: 465508
DisorderType: Disease
Name: Non-HFE-related hemochromatosis
OrphaCode: 648569
DisorderType: Clinical group
Children: Name: TFR2-related hemochromatosis
OrphaCode: 225123
DisorderType: Disease
Name: SLC40A1-related hemochromatosis
OrphaCode: 647834
DisorderType: Disease
Name: HJV or HAMP-related hemochromatosis
OrphaCode: 79230
DisorderType: Disease
Name: Digenic hemochromatosis
OrphaCode: 648581
DisorderType: Disease
Name: FTH1-related iron overload
OrphaCode: 247790
DisorderType: Disease
Name: Glycogen storage disease due to liver phosphorylase kinase deficiency
OrphaCode: 264580
DisorderType: Disease
Name: Familial intrahepatic cholestasis
OrphaCode: 284385
DisorderType: Category
Children: Name: Progressive familial intrahepatic cholestasis
OrphaCode: 172
DisorderType: Disease
Children: Name: Progressive familial intrahepatic cholestasis type 2
OrphaCode: 79304
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 3
OrphaCode: 79305
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 1
OrphaCode: 79306
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 4
OrphaCode: 480483
DisorderType: Clinical subtype
Name: MYO5B-related progressive familial intrahepatic cholestasis
OrphaCode: 480491
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 5
OrphaCode: 480476
DisorderType: Clinical subtype
Name: Hereditary North American Indian childhood cirrhosis
OrphaCode: 168583
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis
OrphaCode: 65682
DisorderType: Disease
Children: Name: Benign recurrent intrahepatic cholestasis type 1
OrphaCode: 99960
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis type 2
OrphaCode: 99961
DisorderType: Clinical subtype
Name: Bile acid synthesis defect with cholestasis and malabsorption
OrphaCode: 163631
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Congenital bile acid synthesis defect
OrphaCode: 485631
DisorderType: Clinical group
Children: Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 1
OrphaCode: 79301
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 3
OrphaCode: 79302
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 2
OrphaCode: 79303
DisorderType: Disease
Name: Familial hypercholanemia
OrphaCode: 238475
DisorderType: Disease
Name: Bile acid CoA ligase deficiency and defective amidation
OrphaCode: 276066
DisorderType: Disease
Name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
OrphaCode: 309854
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with hepatic involvement
OrphaCode: 371157
DisorderType: Category
Children: Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: Ferroportin disease
OrphaCode: 648562
DisorderType: Disease
Name: Hepatic porphyria
OrphaCode: 659694
DisorderType: Clinical group
Children: Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Hepatic cutaneous porphyria
OrphaCode: 659698
DisorderType: Clinical group
Children: Name: Porphyria cutanea tarda
OrphaCode: 101330
DisorderType: Disease
Children: Name: Sporadic porphyria cutanea tarda
OrphaCode: 443057
DisorderType: Clinical subtype
Name: Familial porphyria cutanea tarda
OrphaCode: 443062
DisorderType: Clinical subtype
Name: GRACILE syndrome
OrphaCode: 53693
DisorderType: Disease
Name: Renal tubulopathy-encephalopathy-liver failure syndrome
OrphaCode: 254902
DisorderType: Disease
Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Citrullinemia type II
OrphaCode: 247585
DisorderType: Disease
Name: Genetic parenchymatous liver disease
OrphaCode: 156604
DisorderType: Category
Children: Name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
OrphaCode: 217371
DisorderType: Disease
Name: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
OrphaCode: 440427
DisorderType: Disease
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Fever-associated acute infantile liver failure syndrome
OrphaCode: 464724
DisorderType: Disease
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Syndromic diarrhea
OrphaCode: 84064
DisorderType: Disease
Name: Transient infantile hypertriglyceridemia and hepatosteatosis
OrphaCode: 300293
DisorderType: Disease
Name: Acute infantile liver failure-multisystemic involvement syndrome
OrphaCode: 370088
DisorderType: Disease
Name: Growth retardation-mild developmental delay-chronic hepatitis syndrome
OrphaCode: 391366
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Growth delay-intellectual disability-hepatopathy syndrome
OrphaCode: 541423
DisorderType: Disease
Name: Genetic biliary tract disease
OrphaCode: 156607
DisorderType: Category
Children: Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Isolated polycystic liver disease
OrphaCode: 2924
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Neonatal ichthyosis-sclerosing cholangitis syndrome
OrphaCode: 59303
DisorderType: Disease
Name: Low phospholipid-associated cholelithiasis
OrphaCode: 69663
DisorderType: Disease
Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Caroli syndrome
OrphaCode: 480520
DisorderType: Malformation syndrome
Name: Isolated neonatal sclerosing cholangitis
OrphaCode: 480556
DisorderType: Disease
Name: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
OrphaCode: 521432
DisorderType: Disease
Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Hyperbiliverdinemia
OrphaCode: 276405
DisorderType: Disease
Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Rare genetic respiratory disease
OrphaCode: 156610
DisorderType: Category
Children: Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Familial spontaneous pneumothorax
OrphaCode: 2903
DisorderType: Disease
Name: Primary ciliary dyskinesia
OrphaCode: 244
DisorderType: Disease
Name: Young syndrome
OrphaCode: 3471
DisorderType: Disease
Name: Siegler-Brewer-Carey syndrome
OrphaCode: 3167
DisorderType: Malformation syndrome
Name: Lymphangioleiomyomatosis
OrphaCode: 538
DisorderType: Disease
Name: Idiopathic/heritable pulmonary arterial hypertension
OrphaCode: 422
DisorderType: Disease
Children: Name: Idiopathic pulmonary arterial hypertension
OrphaCode: 275766
DisorderType: Etiological subtype
Name: Heritable pulmonary arterial hypertension
OrphaCode: 275777
DisorderType: Etiological subtype
Name: Pulmonary alveolar microlithiasis
OrphaCode: 60025
DisorderType: Disease
Name: Idiopathic bronchiectasis
OrphaCode: 60033
DisorderType: Disease
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: Genetic respiratory malformation
OrphaCode: 183622
DisorderType: Category
Children: Name: Congenital lobar emphysema
OrphaCode: 1928
DisorderType: Morphological anomaly
Name: Lung agenesis-heart defect-thumb anomalies syndrome
OrphaCode: 1120
DisorderType: Malformation syndrome
Name: Primary pulmonary hypoplasia
OrphaCode: 2257
DisorderType: Morphological anomaly
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Growth delay-hydrocephaly-lung hypoplasia syndrome
OrphaCode: 3035
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Primary ciliary dyskinesia-retinitis pigmentosa syndrome
OrphaCode: 247522
DisorderType: Disease
Name: Genetic interstitial lung disease
OrphaCode: 264992
DisorderType: Category
Children: Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Congenital pulmonary lymphangiectasia
OrphaCode: 2414
DisorderType: Disease
Name: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
OrphaCode: 100049
DisorderType: Category
Children: Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Neonatal acute respiratory distress due to SP-B deficiency
OrphaCode: 217563
DisorderType: Disease
Name: Hereditary pulmonary alveolar proteinosis
OrphaCode: 264675
DisorderType: Disease
Name: Interstitial lung disease due to ABCA3 deficiency
OrphaCode: 440402
DisorderType: Disease
Name: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
OrphaCode: 440427
DisorderType: Disease
Name: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
OrphaCode: 572428
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: Congenital alveolar capillary dysplasia
OrphaCode: 210122
DisorderType: Disease
Name: Chronic respiratory distress with surfactant metabolism deficiency
OrphaCode: 217566
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: 16q24.1 microdeletion syndrome
OrphaCode: 352629
DisorderType: Disease
Name: Interstitial lung disease due to SP-C deficiency
OrphaCode: 440392
DisorderType: Disease
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
OrphaCode: 431353
DisorderType: Category
Children: Name: Pulmonary venoocclusive disease
OrphaCode: 31837
DisorderType: Disease
Name: Pulmonary capillary hemangiomatosis
OrphaCode: 199241
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
OrphaCode: 293987
DisorderType: Disease
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Congenital central hypoventilation syndrome
OrphaCode: 661
DisorderType: Disease
Name: Rare genetic urogenital disease
OrphaCode: 156619
DisorderType: Category
Children: Name: Familial prostate cancer
OrphaCode: 1331
DisorderType: Disease
Name: Genetic urogenital tract malformation
OrphaCode: 156622
DisorderType: Category
Children: Name: Congenital bilateral absence of vas deferens
OrphaCode: 48
DisorderType: Morphological anomaly
Name: Müllerian aplasia
OrphaCode: 73217
DisorderType: Clinical group
Children: Name: Partial bilateral aplasia of the Müllerian ducts
OrphaCode: 180068
DisorderType: Clinical group
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Unilateral aplasia of the Müllerian ducts
OrphaCode: 180071
DisorderType: Clinical group
Children: Name: True unicornuate uterus
OrphaCode: 180074
DisorderType: Morphological anomaly
Name: Pseudounicornuate uterus
OrphaCode: 180079
DisorderType: Morphological anomaly
Name: Syndromic urogenital tract malformation
OrphaCode: 165707
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Lethal hemolytic anemia-genital anomalies syndrome
OrphaCode: 1046
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Spina bifida-hypospadias syndrome
OrphaCode: 3176
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Hypertelorism-hypospadias-polysyndactyly syndrome
OrphaCode: 2211
DisorderType: Malformation syndrome
Name: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
OrphaCode: 2252
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Schilbach-Rott syndrome
OrphaCode: 2353
DisorderType: Malformation syndrome
Name: Czeizel-Losonci syndrome
OrphaCode: 2437
DisorderType: Malformation syndrome
Name: Lower limb malformation-hypospadias syndrome
OrphaCode: 2487
DisorderType: Malformation syndrome
Name: Müllerian duct anomalies-limb anomalies syndrome
OrphaCode: 2491
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
OrphaCode: 3341
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 8p23.1 microdeletion syndrome
OrphaCode: 251071
DisorderType: Malformation syndrome
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Non-syndromic posterior hypospadias
OrphaCode: 95706
DisorderType: Morphological anomaly
Name: Genetic difference of sex development
OrphaCode: 325690
DisorderType: Category
Children: Name: Sex chromosome difference of sex development
OrphaCode: 325546
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Genetic 46,XX difference of sex development
OrphaCode: 325697
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX disorder of gonadal development
OrphaCode: 325055
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Syndrome with 46,XX difference of sex development
OrphaCode: 325109
DisorderType: Category
Children: Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: SERKAL syndrome
OrphaCode: 139466
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Genetic 46,XY difference of sex development
OrphaCode: 325706
DisorderType: Category
Children: Name: Syndrome with 46,XY difference of sex development
OrphaCode: 98087
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: 46,XY disorder of gonadal development
OrphaCode: 325118
DisorderType: Category
Children: Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: Genetic 46,XY difference of sex development of endocrine origin
OrphaCode: 325713
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Rare genetic endocrine disease
OrphaCode: 156638
DisorderType: Category
Children: Name: Rare genetic premature ovarian failure
OrphaCode: 485382
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Symptomatic form of fragile X syndrome in female carriers
OrphaCode: 449291
DisorderType: Disease
Name: Fragile X-associated primary ovarian insufficiency
OrphaCode: 642691
DisorderType: Disease
Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Genetic obesity
OrphaCode: 77828
DisorderType: Category
Children: Name: Genetic non-syndromic obesity
OrphaCode: 98267
DisorderType: Disease
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to congenital leptin resistance
OrphaCode: 179490
DisorderType: Etiological subtype
Children: Name: Obesity due to pro-opiomelanocortin deficiency
OrphaCode: 71526
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Obesity due to melanocortin 4 receptor deficiency
OrphaCode: 71529
DisorderType: Etiological subtype
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
OrphaCode: 329249
DisorderType: Etiological subtype
Name: Obesity due to SIM1 deficiency
OrphaCode: 369873
DisorderType: Etiological subtype
Name: Obesity due to CEP19 deficiency
OrphaCode: 397615
DisorderType: Etiological subtype
Name: Syndromic obesity
OrphaCode: 240371
DisorderType: Category
Children: Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: MOMO syndrome
OrphaCode: 2563
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
OrphaCode: 293987
DisorderType: Disease
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Genetic lipodystrophy
OrphaCode: 98305
DisorderType: Category
Children: Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Lipodystrophy due to peptidic growth factors deficiency
OrphaCode: 1979
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Familial partial lipodystrophy
OrphaCode: 98306
DisorderType: Clinical group
Children: Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: PPARG-related familial partial lipodystrophy
OrphaCode: 79083
DisorderType: Disease
Name: Familial partial lipodystrophy, Köbberling type
OrphaCode: 79084
DisorderType: Disease
Name: AKT2-related familial partial lipodystrophy
OrphaCode: 79085
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: CIDEC-related familial partial lipodystrophy
OrphaCode: 435651
DisorderType: Disease
Name: LIPE-related familial partial lipodystrophy
OrphaCode: 435660
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Rare dyslipidemia
OrphaCode: 101953
DisorderType: Category
Children: Name: Rare hyperlipidemia
OrphaCode: 181422
DisorderType: Category
Children: Name: Dysbetalipoproteinemia
OrphaCode: 412
DisorderType: Disease
Name: Hyperalphalipoproteinemia
OrphaCode: 181428
DisorderType: Clinical group
Children: Name: Cholesterol-ester transfer protein deficiency
OrphaCode: 79506
DisorderType: Disease
Name: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
OrphaCode: 140905
DisorderType: Disease
Name: Familial chylomicronemia syndrome
OrphaCode: 444490
DisorderType: Disease
Children: Name: Familial lipoprotein lipase deficiency
OrphaCode: 309015
DisorderType: Etiological subtype
Name: Familial apolipoprotein C-II deficiency
OrphaCode: 309020
DisorderType: Etiological subtype
Name: Familial lipase maturation factor 1 deficiency
OrphaCode: 535453
DisorderType: Etiological subtype
Name: Familial GPIHBP1 deficiency
OrphaCode: 535458
DisorderType: Etiological subtype
Name: Familial apolipoprotein A5 deficiency
OrphaCode: 530849
DisorderType: Etiological subtype
Name: Rare hypercholesterolemia
OrphaCode: 477811
DisorderType: Category
Children: Name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
OrphaCode: 209902
DisorderType: Disease
Name: Homozygous familial hypercholesterolemia
OrphaCode: 391665
DisorderType: Disease
Name: TMEM199-CDG
OrphaCode: 466703
DisorderType: Disease
Name: CCDC115-CDG
OrphaCode: 468684
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Rare hypolipidemia
OrphaCode: 181431
DisorderType: Category
Children: Name: Hypoalphalipoproteinemia
OrphaCode: 31153
DisorderType: Clinical group
Children: Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Apolipoprotein A-I deficiency
OrphaCode: 425
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Hypobetalipoproteinemia
OrphaCode: 31154
DisorderType: Clinical group
Children: Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Chylomicron retention disease
OrphaCode: 71
DisorderType: Disease
Name: Rare syndromic dyslipidemia
OrphaCode: 181437
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Sitosterolemia
OrphaCode: 2882
DisorderType: Disease
Name: Lysosomal acid lipase deficiency
OrphaCode: 275761
DisorderType: Disease
Children: Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Genetic endocrine growth disease
OrphaCode: 156643
DisorderType: Category
Children: Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Craniopharyngioma
OrphaCode: 54595
DisorderType: Disease
Name: Non-acquired pituitary hormone deficiency
OrphaCode: 95488
DisorderType: Category
Children: Name: Non-acquired isolated growth hormone deficiency
OrphaCode: 631
DisorderType: Disease
Children: Name: Short stature due to growth hormone qualitative anomaly
OrphaCode: 629
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IA
OrphaCode: 231662
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IB
OrphaCode: 231671
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type II
OrphaCode: 231679
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type III
OrphaCode: 231692
DisorderType: Clinical subtype
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: Non-acquired combined pituitary hormone deficiency
OrphaCode: 467
DisorderType: Category
Children: Name: Disease associated with non-acquired combined pituitary hormone deficiency
OrphaCode: 95495
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
OrphaCode: 85442
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
OrphaCode: 178025
DisorderType: Category
Children: Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Congenital isolated ACTH deficiency
OrphaCode: 199296
DisorderType: Disease
Name: Short stature due to GHSR deficiency
OrphaCode: 314811
DisorderType: Disease
Name: Rare acquired premature ovarian failure
OrphaCode: 95709
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Genetic precocious puberty
OrphaCode: 435554
DisorderType: Category
Children: Name: Rare peripheral precocious puberty
OrphaCode: 178040
DisorderType: Category
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Familial peripheral male-limited precocious puberty
OrphaCode: 3000
DisorderType: Disease
Name: Aromatase excess syndrome
OrphaCode: 178345
DisorderType: Disease
Name: Genetic central precocious puberty
OrphaCode: 650182
DisorderType: Clinical group
Children: Name: Genetic central precocious puberty in male
OrphaCode: 650097
DisorderType: Clinical subtype
Name: Genetic central precocious puberty in female
OrphaCode: 650077
DisorderType: Disease
Name: Growth hormone insensitivity syndrome
OrphaCode: 181393
DisorderType: Category
Children: Name: Laron syndrome
OrphaCode: 633
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor type 1 deficiency
OrphaCode: 73272
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor I resistance
OrphaCode: 73273
DisorderType: Disease
Name: Short stature due to primary acid-labile subunit deficiency
OrphaCode: 140941
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Short stature due to partial GHR deficiency
OrphaCode: 314802
DisorderType: Disease
Name: Permanent congenital hypothyroidism
OrphaCode: 226292
DisorderType: Category
Children: Name: Syndromic hypothyroidism
OrphaCode: 177107
DisorderType: Category
Children: Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Muscular pseudohypertrophy-hypothyroidism syndrome
OrphaCode: 2349
DisorderType: Disease
Name: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
OrphaCode: 88643
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Primary congenital hypothyroidism
OrphaCode: 226295
DisorderType: Clinical group
Children: Name: Congenital hypothyroidism due to developmental anomaly
OrphaCode: 95711
DisorderType: Category
Children: Name: Thyroid ectopia
OrphaCode: 95712
DisorderType: Morphological anomaly
Name: Athyreosis
OrphaCode: 95713
DisorderType: Morphological anomaly
Name: Thyroid hemiagenesis
OrphaCode: 95719
DisorderType: Morphological anomaly
Name: Thyroid hypoplasia
OrphaCode: 95720
DisorderType: Morphological anomaly
Name: Primary congenital hypothyroidism without thyroid developmental anomaly
OrphaCode: 95714
DisorderType: Category
Children: Name: Hypothyroidism due to TSH receptor mutations
OrphaCode: 90673
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Idiopathic congenital hypothyroidism
OrphaCode: 95717
DisorderType: Disease
Name: Central congenital hypothyroidism
OrphaCode: 226298
DisorderType: Clinical group
Children: Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Resistance to thyrotropin-releasing hormone syndrome
OrphaCode: 99832
DisorderType: Disease
Name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
OrphaCode: 226307
DisorderType: Disease
Name: Isolated thyrotropin-releasing hormone deficiency
OrphaCode: 238670
DisorderType: Disease
Name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OrphaCode: 329235
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Rare disorder with hypergonadotropic hypogonadism
OrphaCode: 181441
DisorderType: Category
Children: Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Primary hypergonadotropic hypogonadism-partial alopecia syndrome
OrphaCode: 2232
DisorderType: Disease
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Mikati-Najjar-Sahli syndrome
OrphaCode: 2558
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Rare genetic diabetes mellitus
OrphaCode: 183625
DisorderType: Category
Children: Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: Hereditary chronic pancreatitis
OrphaCode: 676
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OrphaCode: 2255
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Myopathy and diabetes mellitus
OrphaCode: 2596
DisorderType: Disease
Name: MODY
OrphaCode: 552
DisorderType: Disease
Name: Neonatal diabetes mellitus
OrphaCode: 224
DisorderType: Category
Children: Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: DEND syndrome
OrphaCode: 79134
DisorderType: Disease
Name: Isolated permanent neonatal diabetes mellitus
OrphaCode: 99885
DisorderType: Disease
Name: Transient neonatal diabetes mellitus
OrphaCode: 99886
DisorderType: Disease
Name: Intermediate DEND syndrome
OrphaCode: 99989
DisorderType: Disease
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Rare insulin-resistance syndrome
OrphaCode: 181368
DisorderType: Category
Children: Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Insulin-resistance syndrome type A
OrphaCode: 2297
DisorderType: Disease
Name: Rabson-Mendenhall syndrome
OrphaCode: 769
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Insulin-resistance syndrome type B
OrphaCode: 2298
DisorderType: Disease
Name: Short fifth metacarpals-insulin resistance syndrome
OrphaCode: 66518
DisorderType: Disease
Name: Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
OrphaCode: 90301
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
OrphaCode: 436144
DisorderType: Disease
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Rare genetic hypothalamic or pituitary disease
OrphaCode: 183628
DisorderType: Category
Children: Name: Pituitary deficiency
OrphaCode: 101957
DisorderType: Category
Children: Name: Hereditary arginine vasopressin deficiency
OrphaCode: 30925
DisorderType: Clinical subtype
Name: Non-acquired pituitary hormone deficiency
OrphaCode: 95488
DisorderType: Category
Children: Name: Non-acquired isolated growth hormone deficiency
OrphaCode: 631
DisorderType: Disease
Children: Name: Short stature due to growth hormone qualitative anomaly
OrphaCode: 629
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IA
OrphaCode: 231662
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IB
OrphaCode: 231671
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type II
OrphaCode: 231679
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type III
OrphaCode: 231692
DisorderType: Clinical subtype
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: Non-acquired combined pituitary hormone deficiency
OrphaCode: 467
DisorderType: Category
Children: Name: Disease associated with non-acquired combined pituitary hormone deficiency
OrphaCode: 95495
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
OrphaCode: 85442
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
OrphaCode: 178025
DisorderType: Category
Children: Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Congenital isolated ACTH deficiency
OrphaCode: 199296
DisorderType: Disease
Name: Short stature due to GHSR deficiency
OrphaCode: 314811
DisorderType: Disease
Name: Growth hormone insensitivity syndrome
OrphaCode: 181393
DisorderType: Category
Children: Name: Laron syndrome
OrphaCode: 633
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor type 1 deficiency
OrphaCode: 73272
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor I resistance
OrphaCode: 73273
DisorderType: Disease
Name: Short stature due to primary acid-labile subunit deficiency
OrphaCode: 140941
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Short stature due to partial GHR deficiency
OrphaCode: 314802
DisorderType: Disease
Name: X-linked acrogigantism
OrphaCode: 300373
DisorderType: Disease
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Rare genetic thyroid disease
OrphaCode: 183631
DisorderType: Category
Children: Name: Rare hypothyroidism
OrphaCode: 181396
DisorderType: Category
Children: Name: Congenital hypothyroidism
OrphaCode: 442
DisorderType: Category
Children: Name: Permanent congenital hypothyroidism
OrphaCode: 226292
DisorderType: Category
Children: Name: Syndromic hypothyroidism
OrphaCode: 177107
DisorderType: Category
Children: Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Muscular pseudohypertrophy-hypothyroidism syndrome
OrphaCode: 2349
DisorderType: Disease
Name: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
OrphaCode: 88643
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Primary congenital hypothyroidism
OrphaCode: 226295
DisorderType: Clinical group
Children: Name: Congenital hypothyroidism due to developmental anomaly
OrphaCode: 95711
DisorderType: Category
Children: Name: Thyroid ectopia
OrphaCode: 95712
DisorderType: Morphological anomaly
Name: Athyreosis
OrphaCode: 95713
DisorderType: Morphological anomaly
Name: Thyroid hemiagenesis
OrphaCode: 95719
DisorderType: Morphological anomaly
Name: Thyroid hypoplasia
OrphaCode: 95720
DisorderType: Morphological anomaly
Name: Primary congenital hypothyroidism without thyroid developmental anomaly
OrphaCode: 95714
DisorderType: Category
Children: Name: Hypothyroidism due to TSH receptor mutations
OrphaCode: 90673
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Idiopathic congenital hypothyroidism
OrphaCode: 95717
DisorderType: Disease
Name: Central congenital hypothyroidism
OrphaCode: 226298
DisorderType: Clinical group
Children: Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Resistance to thyrotropin-releasing hormone syndrome
OrphaCode: 99832
DisorderType: Disease
Name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
OrphaCode: 226307
DisorderType: Disease
Name: Isolated thyrotropin-releasing hormone deficiency
OrphaCode: 238670
DisorderType: Disease
Name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OrphaCode: 329235
DisorderType: Disease
Name: Genetic transient congenital hypothyroidism
OrphaCode: 226316
DisorderType: Disease
Name: Rare hyperthyroidism
OrphaCode: 181399
DisorderType: Category
Children: Name: Familial hyperthyroidism due to mutations in TSH receptor
OrphaCode: 424
DisorderType: Disease
Name: Familial gestational hyperthyroidism
OrphaCode: 99819
DisorderType: Disease
Name: Familial multinodular goiter
OrphaCode: 276399
DisorderType: Disease
Name: Syndrome of reduced sensitivity to thyroid hormone
OrphaCode: 596426
DisorderType: Clinical group
Children: Name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
OrphaCode: 566243
DisorderType: Disease
Name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
OrphaCode: 566231
DisorderType: Disease
Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
OrphaCode: 171706
DisorderType: Disease
Name: Euthyroid dysprealbuminemic hyperthyroxinemia
OrphaCode: 597939
DisorderType: Disease
Name: Rare genetic parathyroid disease and phosphocalcic metabolism disorder
OrphaCode: 183634
DisorderType: Category
Children: Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Genetic hypoparathyroidism
OrphaCode: 208593
DisorderType: Category
Children: Name: Familial isolated hypoparathyroidism
OrphaCode: 2238
DisorderType: Disease
Children: Name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
OrphaCode: 2239
DisorderType: Clinical subtype
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Familial isolated hypoparathyroidism due to impaired PTH secretion
OrphaCode: 189466
DisorderType: Clinical subtype
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Syndrome with hypoparathyroidism
OrphaCode: 181402
DisorderType: Category
Children: Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Pearson syndrome
OrphaCode: 699
DisorderType: Disease
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Genetic hyperparathyroidism
OrphaCode: 208596
DisorderType: Category
Children: Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial primary hyperparathyroidism
OrphaCode: 2207
DisorderType: Clinical group
Children: Name: Familial isolated hyperparathyroidism
OrphaCode: 99879
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Autosomal recessive infantile hypercalcemia
OrphaCode: 300547
DisorderType: Disease
Name: Rare genetic adrenal disease
OrphaCode: 183637
DisorderType: Category
Children: Name: Familial hypoaldosteronism
OrphaCode: 427
DisorderType: Disease
Children: Name: Early-onset familial hypoaldosteronism
OrphaCode: 556030
DisorderType: Clinical subtype
Name: Late-onset familial hypoaldosteronism
OrphaCode: 556037
DisorderType: Clinical subtype
Name: Pseudoleprechaunism syndrome, Patterson type
OrphaCode: 2976
DisorderType: Malformation syndrome
Name: Apparent mineralocorticoid excess
OrphaCode: 320
DisorderType: Disease
Name: Hereditary pheochromocytoma-paraganglioma
OrphaCode: 29072
DisorderType: Disease
Name: Genetic chronic primary adrenal insufficiency
OrphaCode: 101960
DisorderType: Category
Children: Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Adrenomyodystrophy
OrphaCode: 977
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Familial glucocorticoid deficiency
OrphaCode: 361
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
OrphaCode: 289548
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Adrenal hypoplasia congenita
OrphaCode: 595337
DisorderType: Clinical group
Children: Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Xp21 deletion syndrome
OrphaCode: 261476
DisorderType: Disease
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Adrenogenital syndrome
OrphaCode: 181412
DisorderType: Category
Children: Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Hyperandrogenism due to cortisone reductase deficiency
OrphaCode: 168588
DisorderType: Malformation syndrome
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Corticosteroid-binding globulin deficiency
OrphaCode: 199247
DisorderType: Disease
Name: Genetic hyperaldosteronism
OrphaCode: 371861
DisorderType: Category
Children: Name: Familial hyperaldosteronism
OrphaCode: 235936
DisorderType: Clinical group
Children: Name: Familial hyperaldosteronism type I
OrphaCode: 403
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Familial hyperaldosteronism type III
OrphaCode: 251274
DisorderType: Disease
Name: Familial hyperaldosteronism type IV
OrphaCode: 642671
DisorderType: Disease
Name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
OrphaCode: 369929
DisorderType: Disease
Name: Multiple paragangliomas associated with polycythemia
OrphaCode: 324299
DisorderType: Disease
Name: Cushing syndrome due to bilateral macronodular adrenocortical disease
OrphaCode: 189427
DisorderType: Disease
Name: Genetic polyendocrinopathy
OrphaCode: 183643
DisorderType: Category
Children: Name: Bangstad syndrome
OrphaCode: 1227
DisorderType: Malformation syndrome
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Multiple polyglandular tumor
OrphaCode: 100094
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Carney-Stratakis syndrome
OrphaCode: 97286
DisorderType: Disease
Name: Carney triad
OrphaCode: 139411
DisorderType: Disease
Name: Multiple endocrine neoplasia
OrphaCode: 276161
DisorderType: Clinical group
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 4
OrphaCode: 276152
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Familial hyperinsulinism
OrphaCode: 276525
DisorderType: Category
Children: Name: Congenital isolated hyperinsulinism
OrphaCode: 657
DisorderType: Clinical group
Children: Name: Diazoxide-sensitive diffuse hyperinsulinism
OrphaCode: 165985
DisorderType: Clinical group
Children: Name: Hyperinsulinism-hyperammonemia syndrome
OrphaCode: 35878
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Congenital glucokinase-related hyperinsulinism
OrphaCode: 79299
DisorderType: Disease
Name: Exercise-induced hyperinsulinism
OrphaCode: 165991
DisorderType: Disease
Name: Congenital hyperinsulinism due to HNF4A deficiency
OrphaCode: 263455
DisorderType: Disease
Name: Hyperinsulinism due to UCP2 deficiency
OrphaCode: 276556
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
OrphaCode: 276575
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276580
DisorderType: Disease
Name: Hyperinsulinism due to HNF1A deficiency
OrphaCode: 324575
DisorderType: Disease
Name: Diazoxide-resistant hyperinsulinism
OrphaCode: 276585
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism
OrphaCode: 79298
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
OrphaCode: 276598
DisorderType: Disease
Name: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276603
DisorderType: Disease
Name: Diazoxide-resistant diffuse hyperinsulinism
OrphaCode: 165988
DisorderType: Clinical group
Children: Name: Autosomal recessive hyperinsulinism due to SUR1 deficiency
OrphaCode: 79643
DisorderType: Disease
Name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 79644
DisorderType: Disease
Name: Hyperinsulinism due to INSR deficiency
OrphaCode: 263458
DisorderType: Disease
Name: Non-insulinoma pancreatogenous hypoglycemia syndrome
OrphaCode: 276608
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Hypoinsulinemic hypoglycemia and body hemihypertrophy
OrphaCode: 293964
DisorderType: Disease
Name: Genetic difference of sex development
OrphaCode: 325690
DisorderType: Category
Children: Name: Sex chromosome difference of sex development
OrphaCode: 325546
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Genetic 46,XX difference of sex development
OrphaCode: 325697
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX disorder of gonadal development
OrphaCode: 325055
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Syndrome with 46,XX difference of sex development
OrphaCode: 325109
DisorderType: Category
Children: Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: SERKAL syndrome
OrphaCode: 139466
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Genetic 46,XY difference of sex development
OrphaCode: 325706
DisorderType: Category
Children: Name: Syndrome with 46,XY difference of sex development
OrphaCode: 98087
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: 46,XY disorder of gonadal development
OrphaCode: 325118
DisorderType: Category
Children: Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: Genetic 46,XY difference of sex development of endocrine origin
OrphaCode: 325713
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: Rare genetic hematologic disease
OrphaCode: 158300
DisorderType: Category
Children: Name: Paroxysmal nocturnal hemoglobinuria
OrphaCode: 447
DisorderType: Disease
Name: Congenital analbuminemia
OrphaCode: 86816
DisorderType: Disease
Name: Rare constitutional anemia
OrphaCode: 183651
DisorderType: Category
Children: Name: Genetic hemoglobinopathy
OrphaCode: 466066
DisorderType: Category
Children: Name: Hemoglobin M disease
OrphaCode: 330041
DisorderType: Disease
Name: Hereditary methemoglobinemia
OrphaCode: 621
DisorderType: Disease
Name: Hemoglobin C disease
OrphaCode: 2132
DisorderType: Disease
Name: Hemoglobin E disease
OrphaCode: 2133
DisorderType: Disease
Name: Hemoglobin D disease
OrphaCode: 90039
DisorderType: Disease
Name: Alpha-thalassemia and related disorders
OrphaCode: 275745
DisorderType: Category
Children: Name: Alpha-thalassemia
OrphaCode: 846
DisorderType: Disease
Children: Name: Hemoglobin H disease
OrphaCode: 93616
DisorderType: Clinical subtype
Name: Hb Bart's hydrops fetalis
OrphaCode: 163596
DisorderType: Clinical subtype
Name: Syndrome with alpha-thalassemia as a major feature
OrphaCode: 232288
DisorderType: Category
Children: Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: Alpha-thalassemia-myelodysplastic syndrome
OrphaCode: 231401
DisorderType: Disease
Name: Beta-thalassemia and related diseases
OrphaCode: 275749
DisorderType: Category
Children: Name: Beta-thalassemia
OrphaCode: 848
DisorderType: Disease
Children: Name: Beta-thalassemia major
OrphaCode: 231214
DisorderType: Clinical subtype
Name: Beta-thalassemia intermedia
OrphaCode: 231222
DisorderType: Clinical subtype
Name: Dominant beta-thalassemia
OrphaCode: 231226
DisorderType: Clinical subtype
Name: Beta-thalassemia associated with another hemoglobin anomaly
OrphaCode: 231230
DisorderType: Category
Children: Name: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
OrphaCode: 46532
DisorderType: Disease
Name: Delta-beta-thalassemia
OrphaCode: 231237
DisorderType: Disease
Name: Hemoglobin C-beta-thalassemia syndrome
OrphaCode: 231242
DisorderType: Disease
Name: Hemoglobin E-beta-thalassemia syndrome
OrphaCode: 231249
DisorderType: Disease
Name: Hemoglobin Lepore-beta-thalassemia syndrome
OrphaCode: 330032
DisorderType: Disease
Name: Beta-thalassemia with other manifestations
OrphaCode: 231386
DisorderType: Category
Children: Name: Beta-thalassemia-X-linked thrombocytopenia syndrome
OrphaCode: 231393
DisorderType: Disease
Name: Sickle cell disease and related diseases
OrphaCode: 275752
DisorderType: Category
Children: Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Sickle cell disease associated with another hemoglobin anomaly
OrphaCode: 251355
DisorderType: Category
Children: Name: Sickle cell-beta-thalassemia disease syndrome
OrphaCode: 251359
DisorderType: Disease
Name: Sickle cell-hemoglobin C disease syndrome
OrphaCode: 251365
DisorderType: Disease
Name: Sickle cell-hemoglobin D disease syndrome
OrphaCode: 251370
DisorderType: Disease
Name: Sickle cell-hemoglobin E disease syndrome
OrphaCode: 251375
DisorderType: Disease
Name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
OrphaCode: 251380
DisorderType: Disease
Name: Hemoglobinopathy Toms River
OrphaCode: 280615
DisorderType: Disease
Name: Constitutional sideroblastic anemia
OrphaCode: 98362
DisorderType: Category
Children: Name: Pearson syndrome
OrphaCode: 699
DisorderType: Disease
Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: X-linked sideroblastic anemia and spinocerebellar ataxia
OrphaCode: 2802
DisorderType: Disease
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: X-linked sideroblastic anemia
OrphaCode: 75563
DisorderType: Disease
Name: Adult-onset autosomal recessive sideroblastic anemia
OrphaCode: 255132
DisorderType: Disease
Name: Autosomal recessive sideroblastic anemia
OrphaCode: 260305
DisorderType: Disease
Name: Severe congenital hypochromic anemia with ringed sideroblasts
OrphaCode: 300298
DisorderType: Disease
Name: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
OrphaCode: 369861
DisorderType: Disease
Name: Rare constitutional aplastic anemia
OrphaCode: 68383
DisorderType: Category
Children: Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Revesz syndrome
OrphaCode: 3088
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Congenital amegakaryocytic thrombocytopenia
OrphaCode: 3319
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Autosomal dominant aplasia and myelodysplasia
OrphaCode: 314399
DisorderType: Disease
Name: Hereditary isolated aplastic anemia
OrphaCode: 397692
DisorderType: Disease
Name: Pancytopenia-developmental delay syndrome
OrphaCode: 401764
DisorderType: Disease
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Rare constitutional hemolytic anemia
OrphaCode: 182043
DisorderType: Category
Children: Name: Genetic hemolytic uremic syndrome
OrphaCode: 576742
DisorderType: Category
Children: Name: Atypical hemolytic uremic syndrome
OrphaCode: 2134
DisorderType: Disease
Children: Name: Atypical hemolytic uremic syndrome with complement gene abnormality
OrphaCode: 544472
DisorderType: Etiological subtype
Name: Atypical hemolytic uremic syndrome with anti-factor H antibodies
OrphaCode: 93581
DisorderType: Etiological subtype
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Hemolytic uremic syndrome with DGKE deficiency
OrphaCode: 357008
DisorderType: Disease
Name: Lethal hemolytic anemia-genital anomalies syndrome
OrphaCode: 1046
DisorderType: Malformation syndrome
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: Rare constitutional hemolytic anemia due to a red cell membrane anomaly
OrphaCode: 98364
DisorderType: Category
Children: Name: Hereditary spherocytosis
OrphaCode: 822
DisorderType: Disease
Name: Hereditary elliptocytosis
OrphaCode: 288
DisorderType: Disease
Name: Distal renal tubular acidosis with anemia
OrphaCode: 93610
DisorderType: Clinical subtype
Name: Hereditary stomatocytosis
OrphaCode: 98365
DisorderType: Clinical group
Children: Name: Overhydrated hereditary stomatocytosis
OrphaCode: 3203
DisorderType: Disease
Name: Dehydrated hereditary stomatocytosis
OrphaCode: 3202
DisorderType: Disease
Name: Rh deficiency syndrome
OrphaCode: 71275
DisorderType: Disease
Name: Familial pseudohyperkalemia
OrphaCode: 90044
DisorderType: Disease
Name: Southeast Asian ovalocytosis
OrphaCode: 98868
DisorderType: Disease
Name: Hereditary cryohydrocytosis with reduced stomatin
OrphaCode: 168577
DisorderType: Disease
Name: Hereditary cryohydrocytosis with normal stomatin
OrphaCode: 398088
DisorderType: Disease
Name: Constitutional hemolytic anemia due to acanthocytosis
OrphaCode: 98366
DisorderType: Category
Children: Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Primary CD59 deficiency
OrphaCode: 169464
DisorderType: Disease
Name: Rare constitutional hemolytic anemia due to an enzyme disorder
OrphaCode: 98369
DisorderType: Category
Children: Name: Harderoporphyria
OrphaCode: 659672
DisorderType: Disease
Name: Congenital erythropoietic porphyria
OrphaCode: 79277
DisorderType: Disease
Name: Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
OrphaCode: 98370
DisorderType: Category
Children: Name: Glutathione synthetase deficiency
OrphaCode: 32
DisorderType: Disease
Children: Name: Glutathione synthetase deficiency with 5-oxoprolinuria
OrphaCode: 289846
DisorderType: Clinical subtype
Name: Glutathione synthetase deficiency without 5-oxoprolinuria
OrphaCode: 289849
DisorderType: Clinical subtype
Name: Glutamate-cysteine ligase deficiency
OrphaCode: 33574
DisorderType: Disease
Name: Hemolytic anemia due to glutathione reductase deficiency
OrphaCode: 90030
DisorderType: Disease
Name: 6-phosphogluconate dehydrogenase deficiency
OrphaCode: 99135
DisorderType: Disease
Name: Hemolytic anemia due to a disorder of glycolytic enzymes
OrphaCode: 98372
DisorderType: Category
Children: Name: Glycogen storage disease due to muscle phosphofructokinase deficiency
OrphaCode: 371
DisorderType: Disease
Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Glycogen storage disease due to aldolase A deficiency
OrphaCode: 57
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Hemolytic anemia due to red cell pyruvate kinase deficiency
OrphaCode: 766
DisorderType: Disease
Name: Hemolytic anemia due to glucophosphate isomerase deficiency
OrphaCode: 712
DisorderType: Disease
Name: Hemolytic anemia due to diphosphoglycerate mutase deficiency
OrphaCode: 714
DisorderType: Disease
Name: Non-spherocytic hemolytic anemia due to hexokinase deficiency
OrphaCode: 90031
DisorderType: Disease
Name: Class I glucose-6-phosphate dehydrogenase deficiency
OrphaCode: 466026
DisorderType: Disease
Name: Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
OrphaCode: 98374
DisorderType: Category
Children: Name: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
OrphaCode: 35120
DisorderType: Disease
Name: Hemolytic anemia due to adenylate kinase deficiency
OrphaCode: 86817
DisorderType: Disease
Name: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
OrphaCode: 99138
DisorderType: Disease
Name: Autosomal erythropoietic protoporphyria
OrphaCode: 79278
DisorderType: Disease
Name: Constitutional deficiency anemia
OrphaCode: 248296
DisorderType: Category
Children: Name: Constitutional anemia due to iron metabolism disorder
OrphaCode: 98360
DisorderType: Category
Children: Name: Congenital atransferrinemia
OrphaCode: 1195
DisorderType: Disease
Name: Microcytic anemia with liver iron overload
OrphaCode: 83642
DisorderType: Disease
Name: IRIDA syndrome
OrphaCode: 209981
DisorderType: Disease
Name: Severe congenital hypochromic anemia with ringed sideroblasts
OrphaCode: 300298
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
OrphaCode: 98396
DisorderType: Category
Children: Name: Methylmalonic acidemia with homocystinuria
OrphaCode: 26
DisorderType: Disease
Children: Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblD
OrphaCode: 79283
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria type cblF
OrphaCode: 79284
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblJ
OrphaCode: 369955
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblX
OrphaCode: 369962
DisorderType: Clinical subtype
Name: Transcobalamin deficiency
OrphaCode: 859
DisorderType: Disease
Name: Congenital intrinsic factor deficiency
OrphaCode: 332
DisorderType: Disease
Name: Homocystinuria without methylmalonic aciduria
OrphaCode: 622
DisorderType: Disease
Children: Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblG
OrphaCode: 2170
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblDv1
OrphaCode: 308380
DisorderType: Clinical subtype
Name: Imerslund-Gräsbeck syndrome
OrphaCode: 35858
DisorderType: Disease
Name: Constitutional megaloblastic anemia due to folate metabolism disorder
OrphaCode: 98408
DisorderType: Category
Children: Name: Formiminoglutamic aciduria
OrphaCode: 51208
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Constitutional megaloblastic anemia with severe neurologic disease
OrphaCode: 319651
DisorderType: Disease
Name: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
OrphaCode: 658813
DisorderType: Disease
Name: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
OrphaCode: 661412
DisorderType: Disease
Name: Vitamin B12- and folate-independent constitutional megaloblastic anemia
OrphaCode: 98415
DisorderType: Category
Children: Name: Hereditary orotic aciduria
OrphaCode: 30
DisorderType: Disease
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Constitutional dyserythropoietic anemia
OrphaCode: 293830
DisorderType: Category
Children: Name: Congenital dyserythropoietic anemia
OrphaCode: 85
DisorderType: Clinical group
Children: Name: Thrombocytopenia with congenital dyserythropoietic anemia
OrphaCode: 67044
DisorderType: Disease
Name: Congenital dyserythropoietic anemia type I
OrphaCode: 98869
DisorderType: Disease
Name: Congenital dyserythropoietic anemia type III
OrphaCode: 98870
DisorderType: Disease
Name: Congenital dyserythropoietic anemia type II
OrphaCode: 98873
DisorderType: Disease
Name: Congenital dyserythropoietic anemia type IV
OrphaCode: 293825
DisorderType: Disease
Name: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
OrphaCode: 363727
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Pancreatic insufficiency-anemia-hyperostosis syndrome
OrphaCode: 199337
DisorderType: Disease
Name: Rare genetic coagulation disorder
OrphaCode: 183654
DisorderType: Category
Children: Name: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
OrphaCode: 68334
DisorderType: Category
Children: Name: Combined deficiency of factor VII and factor X
OrphaCode: 600691
DisorderType: Disease
Name: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
OrphaCode: 3151
DisorderType: Disease
Name: Hemophilia
OrphaCode: 448
DisorderType: Clinical group
Children: Name: Hemophilia A
OrphaCode: 98878
DisorderType: Disease
Children: Name: Severe hemophilia A
OrphaCode: 169802
DisorderType: Clinical subtype
Name: Moderate hemophilia A
OrphaCode: 169805
DisorderType: Clinical subtype
Name: Mild hemophilia A
OrphaCode: 169808
DisorderType: Clinical subtype
Name: Bleeding disorder in hemophilia A carriers
OrphaCode: 177926
DisorderType: Clinical subtype
Name: Hemophilia B
OrphaCode: 98879
DisorderType: Disease
Children: Name: Severe hemophilia B
OrphaCode: 169793
DisorderType: Clinical subtype
Name: Moderate hemophilia B
OrphaCode: 169796
DisorderType: Clinical subtype
Name: Mild hemophilia B
OrphaCode: 169799
DisorderType: Clinical subtype
Name: Bleeding disorder in hemophilia B carriers
OrphaCode: 177929
DisorderType: Clinical subtype
Name: Hemophilia B Leyden
OrphaCode: 617930
DisorderType: Clinical subtype
Name: Congenital factor V deficiency
OrphaCode: 326
DisorderType: Disease
Name: Congenital fibrinogen deficiency
OrphaCode: 335
DisorderType: Disease
Children: Name: Familial afibrinogenemia
OrphaCode: 98880
DisorderType: Clinical subtype
Name: Familial dysfibrinogenemia
OrphaCode: 98881
DisorderType: Clinical subtype
Name: Familial hypofibrinogenemia
OrphaCode: 101041
DisorderType: Clinical subtype
Name: Familial hypodysfibrinogenemia
OrphaCode: 248408
DisorderType: Clinical subtype
Name: Congenital alpha2-antiplasmin deficiency
OrphaCode: 79
DisorderType: Disease
Name: Congenital factor XIII deficiency
OrphaCode: 331
DisorderType: Disease
Name: Von Willebrand disease
OrphaCode: 903
DisorderType: Disease
Children: Name: Von Willebrand disease type 1
OrphaCode: 166078
DisorderType: Clinical subtype
Name: Von Willebrand disease type 2
OrphaCode: 166081
DisorderType: Clinical subtype
Children: Name: Von Willebrand disease type 2A
OrphaCode: 166084
DisorderType: Clinical subtype
Name: Von Willebrand disease type 2B
OrphaCode: 166087
DisorderType: Clinical subtype
Name: Von Willebrand disease type 2M
OrphaCode: 166090
DisorderType: Clinical subtype
Name: Von Willebrand disease type 2N
OrphaCode: 166093
DisorderType: Clinical subtype
Name: Von Willebrand disease type 3
OrphaCode: 166096
DisorderType: Clinical subtype
Name: Congenital factor XI deficiency
OrphaCode: 329
DisorderType: Disease
Name: Congenital plasminogen activator inhibitor type 1 deficiency
OrphaCode: 465
DisorderType: Disease
Name: Congenital high-molecular-weight kininogen deficiency
OrphaCode: 483
DisorderType: Disease
Name: Congenital prekallikrein deficiency
OrphaCode: 749
DisorderType: Disease
Name: Combined deficiency of factor V and factor VIII
OrphaCode: 35909
DisorderType: Disease
Name: Congenital vitamin K-dependent coagulation factors deficiency
OrphaCode: 169826
DisorderType: Category
Children: Name: Congenital factor VII deficiency
OrphaCode: 327
DisorderType: Disease
Name: Congenital factor II deficiency
OrphaCode: 325
DisorderType: Disease
Name: Congenital factor X deficiency
OrphaCode: 328
DisorderType: Disease
Name: Hereditary combined deficiency of vitamin K-dependent clotting factors
OrphaCode: 98434
DisorderType: Disease
Name: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
OrphaCode: 178396
DisorderType: Disease
Name: Factor V short isoforms-related bleeding disorder
OrphaCode: 599519
DisorderType: Disease
Children: Name: East Texas bleeding disorder
OrphaCode: 391320
DisorderType: Etiological subtype
Name: Factor V Amsterdam bleeding disorder
OrphaCode: 599579
DisorderType: Etiological subtype
Name: Factor V Atlanta bleeding disorder
OrphaCode: 600194
DisorderType: Etiological subtype
Name: Thrombomodulin-related bleeding disorder
OrphaCode: 436169
DisorderType: Disease
Name: Rare hemorrhagic disorder due to a constitutional platelet anomaly
OrphaCode: 71202
DisorderType: Category
Children: Name: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
OrphaCode: 275729
DisorderType: Category
Children: Name: Syndromic constitutional thrombocytopenia
OrphaCode: 477794
DisorderType: Category
Children: Name: Actinomyopathy-associated syndromic thrombocytopenia
OrphaCode: 674653
DisorderType: Disease
Name: Periodic fever-immunodeficiency-thrombocytopenia syndrome
OrphaCode: 652522
DisorderType: Disease
Name: Hereditary thrombocytopenia with early-onset myelofibrosis
OrphaCode: 480851
DisorderType: Disease
Name: Stormorken-Sjaastad-Langslet syndrome
OrphaCode: 3204
DisorderType: Disease
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Macrothrombocytopenia with mitral valve insufficiency
OrphaCode: 220448
DisorderType: Disease
Name: Alpha delta granule deficiency
OrphaCode: 734
DisorderType: Disease
Name: Dense granule disease
OrphaCode: 98456
DisorderType: Category
Children: Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Familial platelet disorder with associated myeloid malignancy
OrphaCode: 71290
DisorderType: Disease
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
OrphaCode: 494444
DisorderType: Disease
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Isolated constitutional thrombocytopenia
OrphaCode: 477797
DisorderType: Category
Children: Name: Isolated hereditary giant platelet disorder
OrphaCode: 220452
DisorderType: Category
Children: Name: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
OrphaCode: 363727
DisorderType: Disease
Name: Severe autosomal recessive macrothrombocytopenia
OrphaCode: 438207
DisorderType: Disease
Name: Bernard-Soulier syndrome
OrphaCode: 274
DisorderType: Disease
Name: Thrombocytopenia with congenital dyserythropoietic anemia
OrphaCode: 67044
DisorderType: Disease
Name: Autosomal dominant macrothrombocytopenia
OrphaCode: 140957
DisorderType: Disease
Name: Alpha granule disease
OrphaCode: 98455
DisorderType: Category
Children: Name: Paris-Trousseau thrombocytopenia
OrphaCode: 851
DisorderType: Disease
Name: Gray platelet syndrome
OrphaCode: 721
DisorderType: Disease
Name: Quebec platelet disorder
OrphaCode: 220436
DisorderType: Disease
Name: Medich giant platelet syndrome
OrphaCode: 370127
DisorderType: Disease
Name: White platelet syndrome
OrphaCode: 370131
DisorderType: Disease
Name: Hereditary thrombocytopenia with normal platelets
OrphaCode: 268322
DisorderType: Disease
Children: Name: X-linked thrombocytopenia with normal platelets
OrphaCode: 852
DisorderType: Etiological subtype
Name: Autosomal thrombocytopenia with normal platelets
OrphaCode: 168629
DisorderType: Etiological subtype
Name: Familial platelet disorder with associated myeloid malignancy
OrphaCode: 71290
DisorderType: Disease
Name: Congenital amegakaryocytic thrombocytopenia
OrphaCode: 3319
DisorderType: Disease
Name: Bleeding diathesis due to thromboxane synthesis deficiency
OrphaCode: 220443
DisorderType: Disease
Name: Isolated delta-storage pool disease
OrphaCode: 248340
DisorderType: Disease
Name: Autosomal dominant thrombocytopenia with platelet secretion defect
OrphaCode: 466806
DisorderType: Disease
Name: Congenital autosomal recessive small-platelet thrombocytopenia
OrphaCode: 566192
DisorderType: Disease
Name: Rare hemorrhagic disorder due to a qualitative platelet defect
OrphaCode: 275736
DisorderType: Category
Children: Name: Glanzmann thrombasthenia
OrphaCode: 849
DisorderType: Disease
Name: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
OrphaCode: 477787
DisorderType: Disease
Name: Scott syndrome
OrphaCode: 806
DisorderType: Disease
Name: Bleeding disorder due to P2Y12 defect
OrphaCode: 36355
DisorderType: Disease
Name: Pseudo-von Willebrand disease
OrphaCode: 52530
DisorderType: Disease
Name: Bleeding diathesis due to a collagen receptor defect
OrphaCode: 73271
DisorderType: Disease
Children: Name: Bleeding diathesis due to glycoprotein VI deficiency
OrphaCode: 98885
DisorderType: Etiological subtype
Name: Bleeding diathesis due to integrin alpha2-beta1 deficiency
OrphaCode: 98886
DisorderType: Etiological subtype
Name: Bleeding disorder due to CalDAG-GEFI deficiency
OrphaCode: 420566
DisorderType: Disease
Name: Congenital thrombotic thrombocytopenic purpura
OrphaCode: 93583
DisorderType: Clinical subtype
Name: Rare thrombotic disorder due to a constitutional coagulation factors defect
OrphaCode: 248361
DisorderType: Category
Children: Name: Congenital factor XII deficiency
OrphaCode: 330
DisorderType: Disease
Name: Familial thrombomodulin anomalies
OrphaCode: 3324
DisorderType: Disease
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: Rare hereditary thrombophilia
OrphaCode: 217454
DisorderType: Clinical group
Children: Name: Severe hereditary thrombophilia due to congenital protein S deficiency
OrphaCode: 743
DisorderType: Disease
Name: Severe hereditary thrombophilia due to congenital protein C deficiency
OrphaCode: 745
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital antithrombin deficiency
OrphaCode: 82
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
OrphaCode: 217467
DisorderType: Disease
Name: Rare thrombotic disorder due to a constitutional platelet anomaly
OrphaCode: 248401
DisorderType: Category
Children: Name: Familial thrombocytosis
OrphaCode: 71493
DisorderType: Disease
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Genetic polycythemia
OrphaCode: 250165
DisorderType: Category
Children: Name: Multiple paragangliomas associated with polycythemia
OrphaCode: 324299
DisorderType: Disease
Name: Primary familial polycythemia
OrphaCode: 90042
DisorderType: Disease
Name: Secondary polycythemia
OrphaCode: 98428
DisorderType: Category
Children: Name: Congenital secondary polycythemia
OrphaCode: 238536
DisorderType: Category
Children: Name: Chuvash erythrocytosis
OrphaCode: 238557
DisorderType: Disease
Name: Autosomal recessive secondary polycythemia not associated with VHL gene
OrphaCode: 247378
DisorderType: Disease
Name: Autosomal dominant secondary polycythemia
OrphaCode: 247511
DisorderType: Disease
Name: L-ferritin deficiency
OrphaCode: 440731
DisorderType: Biological anomaly
Name: Rare genetic gastroenterological disease
OrphaCode: 165652
DisorderType: Category
Children: Name: Genetic intestinal disease
OrphaCode: 165655
DisorderType: Category
Children: Name: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
OrphaCode: 566175
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Primary intestinal lymphangiectasia
OrphaCode: 90362
DisorderType: Disease
Name: Congenital intestinal transport defect
OrphaCode: 104003
DisorderType: Category
Children: Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glucose-galactose malabsorption
OrphaCode: 35710
DisorderType: Disease
Name: Congenital chloride diarrhea
OrphaCode: 53689
DisorderType: Disease
Name: Congenital sodium diarrhea
OrphaCode: 103908
DisorderType: Disease
Name: Syndromic congenital sodium diarrhea
OrphaCode: 563708
DisorderType: Disease
Name: Intestinal disease due to vitamin absorption anomaly
OrphaCode: 104004
DisorderType: Category
Children: Name: Imerslund-Gräsbeck syndrome
OrphaCode: 35858
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Congenital intestinal disease due to an enzymatic defect
OrphaCode: 104006
DisorderType: Category
Children: Name: Congenital sucrase-isomaltase deficiency
OrphaCode: 35122
DisorderType: Disease
Name: Congenital lactase deficiency
OrphaCode: 53690
DisorderType: Disease
Name: Chronic diarrhea due to glucoamylase deficiency
OrphaCode: 103907
DisorderType: Disease
Name: Trehalase deficiency
OrphaCode: 103909
DisorderType: Disease
Name: Congenital enteropathy due to enteropeptidase deficiency
OrphaCode: 168601
DisorderType: Disease
Name: Congenital enteropathy involving intestinal mucosa development
OrphaCode: 104007
DisorderType: Category
Children: Name: Microvillus inclusion disease
OrphaCode: 2290
DisorderType: Disease
Name: Enteric anendocrinosis
OrphaCode: 83620
DisorderType: Disease
Name: Congenital tufting enteropathy
OrphaCode: 92050
DisorderType: Disease
Name: Congenital enterocyte heparan sulfate deficiency
OrphaCode: 103910
DisorderType: Disease
Name: Rare disease involving intestinal motility
OrphaCode: 104009
DisorderType: Category
Children: Name: Hirschsprung disease
OrphaCode: 388
DisorderType: Disease
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Familial visceral myopathy
OrphaCode: 2604
DisorderType: Disease
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Chronic intestinal pseudoobstruction
OrphaCode: 2978
DisorderType: Clinical syndrome
Children: Name: Neuronal intestinal pseudoobstruction
OrphaCode: 99811
DisorderType: Etiological subtype
Name: Myopathic intestinal pseudoobstruction
OrphaCode: 104077
DisorderType: Etiological subtype
Name: Unclassified intestinal pseudoobstruction
OrphaCode: 104078
DisorderType: Etiological subtype
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
OrphaCode: 314373
DisorderType: Disease
Name: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
OrphaCode: 314376
DisorderType: Disease
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Hirschsprung disease-ganglioneuroblastoma syndrome
OrphaCode: 2151
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Metabolic disease with intestinal involvement
OrphaCode: 104013
DisorderType: Category
Children: Name: Pearson syndrome
OrphaCode: 699
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome
OrphaCode: 35698
DisorderType: Category
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form
OrphaCode: 254803
DisorderType: Clinical group
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Fatal infantile lactic acidosis with methylmalonic aciduria
OrphaCode: 17
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
OrphaCode: 369897
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form
OrphaCode: 254871
DisorderType: Clinical group
Children: Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Navajo neurohepatopathy
OrphaCode: 255229
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
OrphaCode: 279934
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
OrphaCode: 313772
DisorderType: Disease
Name: Congenital disorder of glycosylation with intestinal involvement
OrphaCode: 371188
DisorderType: Category
Children: Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Genetic intractable diarrhea of infancy
OrphaCode: 363300
DisorderType: Category
Children: Name: Syndromic congenital sodium diarrhea
OrphaCode: 563708
DisorderType: Disease
Name: Congenital sodium diarrhea
OrphaCode: 103908
DisorderType: Disease
Name: Microvillus inclusion disease
OrphaCode: 2290
DisorderType: Disease
Name: Chronic diarrhea with villous atrophy
OrphaCode: 1670
DisorderType: Disease
Name: Syndromic diarrhea
OrphaCode: 84064
DisorderType: Disease
Name: Congenital tufting enteropathy
OrphaCode: 92050
DisorderType: Disease
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: Congenital chronic diarrhea with protein-losing enteropathy
OrphaCode: 329242
DisorderType: Disease
Name: Syndromic autoimmune enteropathy
OrphaCode: 522043
DisorderType: Clinical group
Children: Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Immunodeficiency due to CD25 deficiency
OrphaCode: 169100
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Genetic intestinal disease due to fat malabsorption
OrphaCode: 363306
DisorderType: Category
Children: Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Chylomicron retention disease
OrphaCode: 71
DisorderType: Disease
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Genetic intestinal polyposis
OrphaCode: 363314
DisorderType: Category
Children: Name: Familial adenomatous polyposis
OrphaCode: 733
DisorderType: Disease
Children: Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Juvenile polyposis syndrome
OrphaCode: 2929
DisorderType: Disease
Children: Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Generalized juvenile polyposis/juvenile polyposis coli
OrphaCode: 329971
DisorderType: Clinical subtype
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Hereditary mixed polyposis syndrome
OrphaCode: 157794
DisorderType: Disease
Name: Serrated polyposis syndrome
OrphaCode: 157798
DisorderType: Disease
Name: Attenuated familial adenomatous polyposis
OrphaCode: 220460
DisorderType: Disease
Children: Name: MUTYH-related attenuated familial adenomatous polyposis
OrphaCode: 247798
DisorderType: Clinical subtype
Name: APC-related attenuated familial adenomatous polyposis
OrphaCode: 247806
DisorderType: Clinical subtype
Name: AXIN2-related attenuated familial adenomatous polyposis
OrphaCode: 401911
DisorderType: Clinical subtype
Name: MSH3-related attenuated familial adenomatous polyposis
OrphaCode: 480536
DisorderType: Clinical subtype
Name: Polymerase proofreading-related adenomatous polyposis
OrphaCode: 447877
DisorderType: Clinical subtype
Name: NTHL1-related attenuated familial adenomatous polyposis
OrphaCode: 454840
DisorderType: Clinical subtype
Name: Primary short bowel syndrome
OrphaCode: 365563
DisorderType: Clinical group
Children: Name: Congenital short bowel syndrome
OrphaCode: 2301
DisorderType: Morphological anomaly
Name: Small bowel atresia
OrphaCode: 1201
DisorderType: Morphological anomaly
Name: Chronic atrial and intestinal dysrhythmia syndrome
OrphaCode: 435988
DisorderType: Disease
Name: IL21-related infantile inflammatory bowel disease
OrphaCode: 477661
DisorderType: Disease
Name: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
OrphaCode: 477787
DisorderType: Disease
Name: Immune dysregulation with inflammatory bowel disease
OrphaCode: 529974
DisorderType: Clinical group
Children: Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OrphaCode: 238569
DisorderType: Disease
Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
OrphaCode: 529977
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
OrphaCode: 529980
DisorderType: Disease
Name: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
OrphaCode: 676125
DisorderType: Disease
Name: Cryptogenic multifocal ulcerous stenosing enteritis
OrphaCode: 468635
DisorderType: Disease
Name: Chronic enteropathy associated with SLCO2A1 gene
OrphaCode: 468641
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to XIAP deficiency
OrphaCode: 538934
DisorderType: Disease
Name: TRIM22-related inflammatory bowel disease
OrphaCode: 597201
DisorderType: Disease
Name: ALPI-related inflammatory bowel disease
OrphaCode: 597887
DisorderType: Disease
Name: Genetic gastro-esophageal disease
OrphaCode: 165658
DisorderType: Category
Children: Name: Palmoplantar keratoderma-esophageal carcinoma syndrome
OrphaCode: 2198
DisorderType: Disease
Name: Cystic fibrosis-gastritis-megaloblastic anemia syndrome
OrphaCode: 2575
DisorderType: Disease
Name: Hereditary diffuse gastric cancer
OrphaCode: 26106
DisorderType: Disease
Name: Moyamoya disease with early-onset achalasia
OrphaCode: 401945
DisorderType: Disease
Name: Gastrocutaneous syndrome
OrphaCode: 2069
DisorderType: Disease
Name: Genetic pancreatic disease
OrphaCode: 165661
DisorderType: Category
Children: Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Hereditary chronic pancreatitis
OrphaCode: 676
DisorderType: Disease
Name: Familial pancreatic carcinoma
OrphaCode: 1333
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Pancreatic insufficiency-anemia-hyperostosis syndrome
OrphaCode: 199337
DisorderType: Disease
Name: Disorder of lipid absorption and transport
OrphaCode: 309028
DisorderType: Category
Children: Name: Pancreatic triacylglycerol lipase deficiency
OrphaCode: 309031
DisorderType: Disease
Name: Pancreatic colipase deficiency
OrphaCode: 309108
DisorderType: Disease
Name: Combined pancreatic lipase-colipase deficiency
OrphaCode: 309111
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Rare genetic bone disease
OrphaCode: 183524
DisorderType: Category
Children: Name: Lysosomal storage disease with skeletal involvement
OrphaCode: 93448
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Mucolipidosis type III
OrphaCode: 577
DisorderType: Disease
Children: Name: Mucolipidosis type III alpha/beta
OrphaCode: 423461
DisorderType: Clinical subtype
Name: Mucolipidosis type III gamma
OrphaCode: 423470
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Congenital vascular bone syndrome
OrphaCode: 235832
DisorderType: Clinical group
Children: Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Angioosteohypotrophic syndrome
OrphaCode: 75508
DisorderType: Malformation syndrome
Name: Primary intraosseous venous malformation
OrphaCode: 140436
DisorderType: Disease
Name: Inverse Klippel-Trénaunay syndrome
OrphaCode: 329324
DisorderType: Disease
Name: Primary bone dysplasia
OrphaCode: 364526
DisorderType: Category
Children: Name: Genetic inflammatory or rheumatoid-like osteoarthropathy
OrphaCode: 498445
DisorderType: Category
Children: Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Overgrowth or tall stature syndrome with skeletal involvement
OrphaCode: 498448
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
OrphaCode: 498485
DisorderType: Malformation syndrome
Name: Kosaki overgrowth syndrome
OrphaCode: 477831
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with micromelia
OrphaCode: 364536
DisorderType: Category
Children: Name: Achondroplasia
OrphaCode: 15
DisorderType: Disease
Name: Hypochondroplasia
OrphaCode: 429
DisorderType: Disease
Name: Diastrophic dysplasia
OrphaCode: 628
DisorderType: Disease
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Otopalatodigital syndrome spectrum disorder
OrphaCode: 364541
DisorderType: Clinical group
Children: Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Frank-Ter Haar syndrome
OrphaCode: 137834
DisorderType: Disease
Name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OrphaCode: 435804
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OrphaCode: 253
DisorderType: Clinical group
Children: Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Hip dysplasia, Beukes type
OrphaCode: 2114
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Metatropic dysplasia
OrphaCode: 2635
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Spondyloperipheral dysplasia-short ulna syndrome
OrphaCode: 1856
DisorderType: Disease
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Brachydactylous dwarfism, Mseleni type
OrphaCode: 2619
DisorderType: Disease
Name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OrphaCode: 93279
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, PAPSS2 type
OrphaCode: 93282
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Kimberley type
OrphaCode: 93283
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda
OrphaCode: 93284
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
OrphaCode: 93346
DisorderType: Disease
Name: Anauxetic dysplasia
OrphaCode: 93347
DisorderType: Disease
Name: X-linked spondyloepimetaphyseal dysplasia
OrphaCode: 93349
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Irapa type
OrphaCode: 93351
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Shohat type
OrphaCode: 93352
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Missouri type
OrphaCode: 93356
DisorderType: Disease
Name: SPONASTRIME dysplasia
OrphaCode: 93357
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OrphaCode: 93358
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia congenita
OrphaCode: 94068
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Handigodu type
OrphaCode: 99642
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia with metatarsal shortening
OrphaCode: 137678
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, matrilin-3 type
OrphaCode: 156728
DisorderType: Disease
Name: Dyssegmental dysplasia, Rolland-Desbuquois type
OrphaCode: 156731
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
OrphaCode: 163654
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Reardon type
OrphaCode: 163662
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
OrphaCode: 168443
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
OrphaCode: 168451
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Geneviève type
OrphaCode: 168454
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, aggrecan type
OrphaCode: 171866
DisorderType: Disease
Name: Smith-McCort dysplasia
OrphaCode: 178355
DisorderType: Disease
Name: Spondylo-megaepiphyseal-metaphyseal dysplasia
OrphaCode: 228387
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Maroteaux type
OrphaCode: 263482
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OrphaCode: 370015
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, Stanescu type
OrphaCode: 459051
DisorderType: Disease
Name: Spondylometaphyseal dysplasia
OrphaCode: 254
DisorderType: Clinical group
Children: Name: Spondylometaphyseal dysplasia, A4 type
OrphaCode: 168555
DisorderType: Disease
Name: Regressive spondylometaphyseal dysplasia
OrphaCode: 448267
DisorderType: Malformation syndrome
Name: Spondyloenchondrodysplasia
OrphaCode: 1855
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Kozlowski type
OrphaCode: 93314
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, 'corner fracture' type
OrphaCode: 93315
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Schmidt type
OrphaCode: 93316
DisorderType: Disease
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Golden type
OrphaCode: 168544
DisorderType: Disease
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
OrphaCode: 168552
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Ciliopathies with major skeletal involvement
OrphaCode: 93426
DisorderType: Category
Children: Name: Short rib-polydactyly syndrome
OrphaCode: 1505
DisorderType: Clinical group
Children: Name: Short rib-polydactyly syndrome type 5
OrphaCode: 498497
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Beemer-Langer type
OrphaCode: 93268
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Majewski type
OrphaCode: 93269
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Thoracomelic dysplasia
OrphaCode: 1803
DisorderType: Disease
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: Multiple epiphyseal dysplasia and pseudoachondroplasia
OrphaCode: 93429
DisorderType: Category
Children: Name: Multiple epiphyseal dysplasia
OrphaCode: 251
DisorderType: Clinical group
Children: Name: Multiple epiphyseal dysplasia type 4
OrphaCode: 93307
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 1
OrphaCode: 93308
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 5
OrphaCode: 93311
DisorderType: Disease
Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
OrphaCode: 166002
DisorderType: Disease
Name: Multiple epiphyseal dysplasia, Lowry type
OrphaCode: 166016
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
OrphaCode: 166024
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
OrphaCode: 166029
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-miniepiphyses syndrome
OrphaCode: 166032
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 7
OrphaCode: 647676
DisorderType: Disease
Name: Lowry-Wood syndrome
OrphaCode: 1824
DisorderType: Disease
Name: Pseudoachondroplasia
OrphaCode: 750
DisorderType: Disease
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Multiple metaphyseal dysplasia
OrphaCode: 93430
DisorderType: Clinical group
Children: Name: Metaphyseal anadysplasia
OrphaCode: 1040
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Schmid type
OrphaCode: 174
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Rosenberg type
OrphaCode: 1837
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Spahr type
OrphaCode: 2501
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
OrphaCode: 2504
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Jansen type
OrphaCode: 33067
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Kaitila type
OrphaCode: 166038
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Spondylodysplastic dysplasia
OrphaCode: 93434
DisorderType: Clinical group
Children: Name: SBDS-related severe neonatal spondylometaphyseal dysplasia
OrphaCode: 622934
DisorderType: Malformation syndrome
Name: Opsismodysplasia
OrphaCode: 2746
DisorderType: Disease
Name: Achondrogenesis
OrphaCode: 932
DisorderType: Disease
Children: Name: Achondrogenesis type 2
OrphaCode: 93296
DisorderType: Clinical subtype
Name: Hypochondrogenesis
OrphaCode: 93297
DisorderType: Clinical subtype
Name: Achondrogenesis type 1B
OrphaCode: 93298
DisorderType: Clinical subtype
Name: Achondrogenesis type 1A
OrphaCode: 93299
DisorderType: Clinical subtype
Name: Brachyolmia
OrphaCode: 1293
DisorderType: Clinical group
Children: Name: Autosomal recessive brachyolmia
OrphaCode: 448242
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Brachyolmia, Maroteaux type
OrphaCode: 93302
DisorderType: Malformation syndrome
Name: Autosomal dominant brachyolmia
OrphaCode: 93304
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Spondylocamptodactyly syndrome
OrphaCode: 3180
DisorderType: Malformation syndrome
Name: Spondylocarpotarsal synostosis
OrphaCode: 3275
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Platyspondylic dysplasia, Torrance type
OrphaCode: 85166
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Sedaghatian type
OrphaCode: 93317
DisorderType: Malformation syndrome
Name: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
OrphaCode: 401979
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Acromelic dysplasia
OrphaCode: 93436
DisorderType: Clinical group
Children: Name: MIR140-related spondyloepiphyseal dysplasia
OrphaCode: 623695
DisorderType: Malformation syndrome
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Acromicric dysplasia
OrphaCode: 969
DisorderType: Malformation syndrome
Name: Geleophysic dysplasia
OrphaCode: 2623
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Angel-shaped phalango-epiphyseal dysplasia
OrphaCode: 63442
DisorderType: Malformation syndrome
Name: Acrocapitofemoral dysplasia
OrphaCode: 63446
DisorderType: Malformation syndrome
Name: Craniofacial conodysplasia
OrphaCode: 85168
DisorderType: Malformation syndrome
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia
OrphaCode: 93437
DisorderType: Clinical group
Children: Name: Acromesomelic dysplasia, Hunter-Thompson type
OrphaCode: 968
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Maroteaux type
OrphaCode: 40
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Grebe type
OrphaCode: 2098
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Mesomelic and rhizo-mesomelic dysplasia
OrphaCode: 93438
DisorderType: Clinical group
Children: Name: Léri-Weill dyschondrosteosis
OrphaCode: 240
DisorderType: Malformation syndrome
Name: Cleidorhizomelic syndrome
OrphaCode: 1453
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Kantaputra type
OrphaCode: 1836
DisorderType: Malformation syndrome
Name: Fibrochondrogenesis
OrphaCode: 2021
DisorderType: Disease
Name: Upper limb mesomelic dysplasia, type Fryns
OrphaCode: 2497
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Langer mesomelic dysplasia
OrphaCode: 2632
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Nievergelt type
OrphaCode: 2633
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism, Reinhardt-Pfeiffer type
OrphaCode: 2634
DisorderType: Malformation syndrome
Name: Omodysplasia
OrphaCode: 2733
DisorderType: Malformation syndrome
Children: Name: Autosomal dominant omodysplasia
OrphaCode: 93328
DisorderType: Clinical subtype
Name: Autosomal recessive omodysplasia
OrphaCode: 93329
DisorderType: Clinical subtype
Name: Rhizomelic syndrome, Urbach type
OrphaCode: 3098
DisorderType: Malformation syndrome
Name: Rhizomelic dysplasia, Patterson-Lowry type
OrphaCode: 2831
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Savarirayan type
OrphaCode: 85170
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: SHOX-related short stature
OrphaCode: 314795
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: Campomelic dysplasia and related disorders
OrphaCode: 93439
DisorderType: Clinical group
Children: Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Kyphomelic dysplasia
OrphaCode: 1801
DisorderType: Malformation syndrome
Name: Blount disease
OrphaCode: 2768
DisorderType: Malformation syndrome
Name: Weismann-Netter syndrome
OrphaCode: 3344
DisorderType: Malformation syndrome
Name: Stüve-Wiedemann syndrome
OrphaCode: 3206
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
OrphaCode: 324307
DisorderType: Malformation syndrome
Name: Slender bone dysplasia
OrphaCode: 93440
DisorderType: Clinical group
Children: Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OrphaCode: 314394
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Thin ribs-tubular bones-dysmorphism syndrome
OrphaCode: 1506
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Primary bone dysplasia with multiple joint dislocations
OrphaCode: 93441
DisorderType: Clinical group
Children: Name: Larsen-like osseous dysplasia-short stature syndrome
OrphaCode: 2370
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Auriculoosteodysplasia
OrphaCode: 114
DisorderType: Malformation syndrome
Name: Boomerang dysplasia
OrphaCode: 1263
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Coxoauricular syndrome
OrphaCode: 1508
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: Chondrodysplasia with joint dislocations, gPAPP type
OrphaCode: 280586
DisorderType: Malformation syndrome
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Steel syndrome
OrphaCode: 438117
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: Chondrodysplasia punctata
OrphaCode: 93442
DisorderType: Clinical group
Children: Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Non-rhizomelic chondrodysplasia punctata
OrphaCode: 176
DisorderType: Clinical group
Children: Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Brachytelephalangic chondrodysplasia punctata
OrphaCode: 79345
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, tibial-metacarpal type
OrphaCode: 79346
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, Toriello type
OrphaCode: 79347
DisorderType: Malformation syndrome
Name: Astley-Kendall dysplasia
OrphaCode: 85175
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with increased bone density
OrphaCode: 93444
DisorderType: Category
Children: Name: Juvenile Paget disease
OrphaCode: 2801
DisorderType: Malformation syndrome
Name: Camurati-Engelmann disease
OrphaCode: 1328
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Craniofacial dysostosis-diaphyseal hyperplasia syndrome
OrphaCode: 1798
DisorderType: Malformation syndrome
Name: Ghosal hematodiaphyseal dysplasia
OrphaCode: 1802
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Endosteal hyperostosis, Worth type
OrphaCode: 2790
DisorderType: Malformation syndrome
Name: Pyle disease
OrphaCode: 3005
DisorderType: Disease
Name: Sclerosteosis
OrphaCode: 3152
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Hyperostosis corticalis generalisata
OrphaCode: 3416
DisorderType: Malformation syndrome
Name: Dysplastic cortical hyperostosis
OrphaCode: 646139
DisorderType: Malformation syndrome
Children: Name: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
OrphaCode: 2204
DisorderType: Clinical subtype
Name: Dysplastic cortical hyperostosis, Al-Gazali type
OrphaCode: 646136
DisorderType: Clinical subtype
Name: Osteopetrosis and related disorders
OrphaCode: 2781
DisorderType: Clinical group
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Isolated osteopoikilosis
OrphaCode: 166119
DisorderType: Disease
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Intermediate osteopetrosis
OrphaCode: 210110
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Dysosteosclerosis
OrphaCode: 1782
DisorderType: Malformation syndrome
Name: Melorheostosis with osteopoikilosis
OrphaCode: 1879
DisorderType: Malformation syndrome
Name: Melorheostosis
OrphaCode: 2485
DisorderType: Malformation syndrome
Name: Osteomesopyknosis
OrphaCode: 2777
DisorderType: Malformation syndrome
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Autosomal dominant osteopetrosis type 1
OrphaCode: 2783
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Infantile osteopetrosis with neuroaxonal dysplasia
OrphaCode: 85179
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Osteosclerotic metaphyseal dysplasia
OrphaCode: 500548
DisorderType: Malformation syndrome
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Craniometadiaphyseal dysplasia, wormian bone type
OrphaCode: 85184
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia, Braun-Tinschert type
OrphaCode: 85188
DisorderType: Malformation syndrome
Name: Neonatal osteosclerotic dysplasia
OrphaCode: 93443
DisorderType: Clinical group
Children: Name: Caffey disease
OrphaCode: 1310
DisorderType: Malformation syndrome
Name: Osteosclerotic bone dysplasia
OrphaCode: 1832
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Primary hypertrophic osteoarthropathy
OrphaCode: 248095
DisorderType: Clinical group
Children: Name: Cranio-osteoarthropathy
OrphaCode: 1525
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: High bone mass osteogenesis imperfecta
OrphaCode: 314029
DisorderType: Disease
Name: Mixed sclerosing bone dystrophy with extra-skeletal manifestations
OrphaCode: 324364
DisorderType: Disease
Name: X-linked calvarial hyperostosis
OrphaCode: 391327
DisorderType: Disease
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Primary bone dysplasia with decreased bone density
OrphaCode: 93446
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta
OrphaCode: 666
DisorderType: Disease
Children: Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 5
OrphaCode: 216828
DisorderType: Clinical subtype
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Osteoporosis-oculocutaneous hypopigmentation syndrome
OrphaCode: 2786
DisorderType: Malformation syndrome
Name: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OrphaCode: 2787
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Complex lethal osteochondrodysplasia
OrphaCode: 457378
DisorderType: Malformation syndrome
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Singleton-Merten dysplasia
OrphaCode: 85191
DisorderType: Malformation syndrome
Name: Calvarial doughnut lesions-bone fragility syndrome
OrphaCode: 85192
DisorderType: Malformation syndrome
Name: Idiopathic juvenile osteoporosis
OrphaCode: 85193
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: X-linked osteoporosis with fractures
OrphaCode: 391330
DisorderType: Disease
Name: LRP5-related primary osteoporosis
OrphaCode: 498481
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Primary bone dysplasia with defective bone mineralization
OrphaCode: 93447
DisorderType: Category
Children: Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Familial calcium pyrophosphate deposition
OrphaCode: 1416
DisorderType: Disease
Name: Primary osteolysis
OrphaCode: 93449
DisorderType: Category
Children: Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Epiphyseal stippling-osteoclastic hyperplasia syndrome
OrphaCode: 1952
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Talo-patello-scaphoid osteolysis
OrphaCode: 50809
DisorderType: Malformation syndrome
Name: Familial expansile osteolysis
OrphaCode: 85195
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Phalangeal microgeodic syndrome
OrphaCode: 352636
DisorderType: Disease
Name: Multicentric osteolysis-nodulosis-arthropathy spectrum
OrphaCode: 371428
DisorderType: Disease
Name: Primary bone dysplasia with disorganized development of skeletal components
OrphaCode: 93450
DisorderType: Category
Children: Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Fibrous dysplasia/McCune-Albright syndrome
OrphaCode: 595216
DisorderType: Clinical group
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Fibrous dysplasia of bone
OrphaCode: 249
DisorderType: Malformation syndrome
Children: Name: Monostotic fibrous dysplasia
OrphaCode: 93277
DisorderType: Clinical subtype
Name: Polyostotic fibrous dysplasia
OrphaCode: 93276
DisorderType: Clinical subtype
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Dysplasia epiphysealis hemimelica
OrphaCode: 1822
DisorderType: Malformation syndrome
Name: Exostoses-anetodermia-brachydactyly type E syndrome
OrphaCode: 1962
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Metachondromatosis
OrphaCode: 2499
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Carpotarsal osteochondromatosis
OrphaCode: 2767
DisorderType: Malformation syndrome
Name: Short stature, Brussels type
OrphaCode: 2867
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Upington disease
OrphaCode: 3408
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Mazabraud syndrome
OrphaCode: 57782
DisorderType: Malformation syndrome
Name: Genochondromatosis type 1
OrphaCode: 85197
DisorderType: Disease
Name: Dysspondyloenchondromatosis
OrphaCode: 85198
DisorderType: Malformation syndrome
Name: Genochondromatosis type 2
OrphaCode: 93398
DisorderType: Disease
Name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
OrphaCode: 99646
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Osteofibrous dysplasia
OrphaCode: 488265
DisorderType: Disease
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia and isolated cranial ossification defect
OrphaCode: 93451
DisorderType: Category
Children: Name: Parietal foramina with clavicular hypoplasia
OrphaCode: 251290
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Lethal chondrodysplasia
OrphaCode: 93465
DisorderType: Category
Children: Name: Bone dysplasia, lethal Holmgren type
OrphaCode: 1842
DisorderType: Malformation syndrome
Name: Lethal Kniest-like dysplasia
OrphaCode: 2347
DisorderType: Malformation syndrome
Name: Pyknoachondrogenesis
OrphaCode: 3003
DisorderType: Malformation syndrome
Name: Lethal recessive chondrodysplasia
OrphaCode: 1423
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
OrphaCode: 364531
DisorderType: Category
Children: Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Rare bone disease related to a common gene or pathway defect
OrphaCode: 364803
DisorderType: Category
Children: Name: Proteoglycan-related bone disorder
OrphaCode: 674499
DisorderType: Category
Children: Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Kimberley type
OrphaCode: 93283
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, aggrecan type
OrphaCode: 171866
DisorderType: Disease
Name: Familial osteochondritis dissecans
OrphaCode: 251262
DisorderType: Disease
Name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OrphaCode: 435804
DisorderType: Disease
Name: FGFR3-related chondrodysplasia
OrphaCode: 93420
DisorderType: Category
Children: Name: Achondroplasia
OrphaCode: 15
DisorderType: Disease
Name: Hypochondroplasia
OrphaCode: 429
DisorderType: Disease
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OrphaCode: 85164
DisorderType: Disease
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Type 2 collagen-related bone disorder
OrphaCode: 93421
DisorderType: Category
Children: Name: Spondyloepiphyseal dysplasia, Stanescu type
OrphaCode: 459051
DisorderType: Disease
Name: Legg-Calvé-Perthes disease
OrphaCode: 2380
DisorderType: Disease
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Spondyloperipheral dysplasia-short ulna syndrome
OrphaCode: 1856
DisorderType: Disease
Name: Platyspondylic dysplasia, Torrance type
OrphaCode: 85166
DisorderType: Malformation syndrome
Name: Familial avascular necrosis of femoral head
OrphaCode: 86820
DisorderType: Disease
Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OrphaCode: 93279
DisorderType: Disease
Name: Achondrogenesis type 2
OrphaCode: 93296
DisorderType: Clinical subtype
Name: Hypochondrogenesis
OrphaCode: 93297
DisorderType: Clinical subtype
Name: Spondylometaphyseal dysplasia, 'corner fracture' type
OrphaCode: 93315
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Schmidt type
OrphaCode: 93316
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
OrphaCode: 93346
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia congenita
OrphaCode: 94068
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia with metatarsal shortening
OrphaCode: 137678
DisorderType: Disease
Name: Type 11 collagen-related bone disorder
OrphaCode: 93422
DisorderType: Category
Children: Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Fibrochondrogenesis
OrphaCode: 2021
DisorderType: Disease
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: Sulfation-related bone disorder
OrphaCode: 93423
DisorderType: Category
Children: Name: Diastrophic dysplasia
OrphaCode: 628
DisorderType: Disease
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia, PAPSS2 type
OrphaCode: 93282
DisorderType: Disease
Name: Achondrogenesis type 1B
OrphaCode: 93298
DisorderType: Clinical subtype
Name: Multiple epiphyseal dysplasia type 4
OrphaCode: 93307
DisorderType: Disease
Name: Filamin-related bone disorder
OrphaCode: 93425
DisorderType: Category
Children: Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Boomerang dysplasia
OrphaCode: 1263
DisorderType: Disease
Name: Spondylocarpotarsal synostosis
OrphaCode: 3275
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome spectrum disorder
OrphaCode: 364541
DisorderType: Clinical group
Children: Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Frank-Ter Haar syndrome
OrphaCode: 137834
DisorderType: Disease
Name: TRPV4-related bone disorder
OrphaCode: 364820
DisorderType: Category
Children: Name: Metatropic dysplasia
OrphaCode: 2635
DisorderType: Disease
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Autosomal dominant brachyolmia
OrphaCode: 93304
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Kozlowski type
OrphaCode: 93314
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Maroteaux type
OrphaCode: 263482
DisorderType: Disease
Name: Congenital disorder of glycosylation-related bone disorder
OrphaCode: 371195
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Ciliopathies with major skeletal involvement
OrphaCode: 93426
DisorderType: Category
Children: Name: Short rib-polydactyly syndrome
OrphaCode: 1505
DisorderType: Clinical group
Children: Name: Short rib-polydactyly syndrome type 5
OrphaCode: 498497
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Beemer-Langer type
OrphaCode: 93268
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Majewski type
OrphaCode: 93269
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Thoracomelic dysplasia
OrphaCode: 1803
DisorderType: Disease
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: Osteonecrosis of genetic origin
OrphaCode: 399380
DisorderType: Category
Children: Name: Familial osteochondritis dissecans
OrphaCode: 251262
DisorderType: Disease
Name: Avascular necrosis of genetic origin
OrphaCode: 399388
DisorderType: Category
Children: Name: Familial avascular necrosis of femoral head
OrphaCode: 86820
DisorderType: Disease
Name: Rare hereditary disease with avascular necrosis
OrphaCode: 399185
DisorderType: Category
Children: Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Rare hereditary thrombophilia
OrphaCode: 217454
DisorderType: Clinical group
Children: Name: Severe hereditary thrombophilia due to congenital protein S deficiency
OrphaCode: 743
DisorderType: Disease
Name: Severe hereditary thrombophilia due to congenital protein C deficiency
OrphaCode: 745
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital antithrombin deficiency
OrphaCode: 82
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
OrphaCode: 217467
DisorderType: Disease
Name: Osteochondrosis of genetic origin
OrphaCode: 399391
DisorderType: Category
Children: Name: Thiemann disease, familial form
OrphaCode: 3314
DisorderType: Disease
Name: Dysostosis of genetic origin
OrphaCode: 404568
DisorderType: Category
Children: Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Congenital pseudoarthrosis of the clavicle
OrphaCode: 66630
DisorderType: Disease
Name: Dysostosis with predominant craniofacial involvement
OrphaCode: 93453
DisorderType: Category
Children: Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia
OrphaCode: 250
DisorderType: Clinical group
Children: Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia-Poland anomaly syndrome
OrphaCode: 1521
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Oculoauriculofrontonasal syndrome
OrphaCode: 398156
DisorderType: Malformation syndrome
Name: SIX2-related frontonasal dysplasia
OrphaCode: 488437
DisorderType: Malformation syndrome
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
OrphaCode: 521308
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Familial osteodysplasia, Anderson type
OrphaCode: 2769
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Dobrow syndrome
OrphaCode: 3262
DisorderType: Malformation syndrome
Name: Dysostosis with predominant vertebral and costal involvement
OrphaCode: 93454
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Ankylosing vertebral hyperostosis with tylosis
OrphaCode: 2206
DisorderType: Malformation syndrome
Name: Melhem-Fahl syndrome
OrphaCode: 2482
DisorderType: Malformation syndrome
Name: Imperforate oropharynx-costovertebral anomalies syndrome
OrphaCode: 2759
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Autosomal dominant spondylocostal dysostosis
OrphaCode: 1797
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OrphaCode: 85164
DisorderType: Disease
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Patellar dysostosis
OrphaCode: 93455
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Coxopodopatellar syndrome
OrphaCode: 1509
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Dysostosis of genetic origin with limb anomaly as a major feature
OrphaCode: 404571
DisorderType: Category
Children: Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Dysostosis with limb and face anomalies as a major feature
OrphaCode: 364571
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis
OrphaCode: 364574
DisorderType: Clinical group
Children: Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Acrofrontofacionasal dysostosis
OrphaCode: 1784
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Genetic syndrome with limb reduction defects
OrphaCode: 404574
DisorderType: Category
Children: Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Ectrodactyly with and without other manifestations
OrphaCode: 498477
DisorderType: Category
Children: Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Isolated split hand-split foot malformation
OrphaCode: 2440
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Rare genetic developmental defect during embryogenesis
OrphaCode: 183530
DisorderType: Category
Children: Name: Pericardial and diaphragmatic defect
OrphaCode: 2847
DisorderType: Malformation syndrome
Name: Malformation syndrome with hamartosis
OrphaCode: 98196
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Developmental anomaly of metabolic origin
OrphaCode: 139009
DisorderType: Category
Children: Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Sterol biosynthesis disorder
OrphaCode: 79195
DisorderType: Category
Children: Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Mucolipidosis
OrphaCode: 79212
DisorderType: Category
Children: Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Mucolipidosis type III
OrphaCode: 577
DisorderType: Disease
Children: Name: Mucolipidosis type III alpha/beta
OrphaCode: 423461
DisorderType: Clinical subtype
Name: Mucolipidosis type III gamma
OrphaCode: 423470
DisorderType: Clinical subtype
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Oligosaccharidosis
OrphaCode: 79215
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Sialidosis
OrphaCode: 309294
DisorderType: Clinical group
Children: Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with developmental anomaly
OrphaCode: 371235
DisorderType: Category
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Congenital disorder of glycosylation with cardiac malformation as a major feature
OrphaCode: 371183
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation-related bone disorder
OrphaCode: 371195
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Congenital disorder of glycosylation with deafness as a major feature
OrphaCode: 371212
DisorderType: Category
Children: Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Rare developmental defect with skin/mucosae involvement
OrphaCode: 139027
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Junctional epidermolysis bullosa
OrphaCode: 305
DisorderType: Clinical group
Children: Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Junctional epidermolysis bullosa with pyloric atresia
OrphaCode: 79403
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Junctional epidermolysis bullosa inversa
OrphaCode: 79405
DisorderType: Disease
Name: Late-onset junctional epidermolysis bullosa
OrphaCode: 79406
DisorderType: Disease
Name: Localized junctional epidermolysis bullosa
OrphaCode: 251393
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Intermediate generalized junctional epidermolysis bullosa
OrphaCode: 79402
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa
OrphaCode: 303
DisorderType: Clinical group
Children: Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Recessive dystrophic epidermolysis bullosa inversa
OrphaCode: 79409
DisorderType: Disease
Name: Localized dystrophic epidermolysis bullosa
OrphaCode: 595356
DisorderType: Disease
Children: Name: Localized dystrophic epidermolysis bullosa, pretibial form
OrphaCode: 79410
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, acral form
OrphaCode: 158673
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, nails only
OrphaCode: 158676
DisorderType: Clinical subtype
Name: Self-improving dystrophic epidermolysis bullosa
OrphaCode: 79411
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa pruriginosa
OrphaCode: 89843
DisorderType: Disease
Name: Autosomal dominant generalized dystrophic epidermolysis bullosa
OrphaCode: 231568
DisorderType: Disease
Name: Lipoid proteinosis
OrphaCode: 530
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Isolated congenital anonychia
OrphaCode: 79143
DisorderType: Disease
Children: Name: Anonychia-onychodystrophy syndrome
OrphaCode: 90390
DisorderType: Clinical subtype
Name: Anonychia congenita totalis
OrphaCode: 94150
DisorderType: Clinical subtype
Name: Ectodermal dysplasia syndrome
OrphaCode: 79373
DisorderType: Category
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Amelo-onycho-hypohidrotic syndrome
OrphaCode: 1028
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-ectodermal dysplasia syndrome
OrphaCode: 1174
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Böök syndrome
OrphaCode: 1262
DisorderType: Malformation syndrome
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: Dermatoosteolysis, Kirghizian type
OrphaCode: 1657
DisorderType: Malformation syndrome
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Christianson-Fourie type
OrphaCode: 1808
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pili torti-onychodysplasia syndrome
OrphaCode: 2890
DisorderType: Malformation syndrome
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Conductive deafness-ptosis-skeletal anomalies syndrome
OrphaCode: 3236
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Oculoectodermal syndrome
OrphaCode: 3339
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Pure hair and nail ectodermal dysplasia
OrphaCode: 69084
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fried's tooth and nail syndrome
OrphaCode: 99672
DisorderType: Malformation syndrome
Name: Dermotrichic syndrome
OrphaCode: 99688
DisorderType: Malformation syndrome
Name: Lelis syndrome
OrphaCode: 140936
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-skin fragility syndrome
OrphaCode: 158668
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
OrphaCode: 247820
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
OrphaCode: 247827
DisorderType: Malformation syndrome
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Focal facial dermal dysplasia
OrphaCode: 398166
DisorderType: Malformation syndrome
Children: Name: Focal facial dermal dysplasia type III
OrphaCode: 1807
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type I
OrphaCode: 79133
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type II
OrphaCode: 398173
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type IV
OrphaCode: 398189
DisorderType: Clinical subtype
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Isolated congenital adermatoglyphia
OrphaCode: 289465
DisorderType: Disease
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Rare developmental defect with connective tissue involvement
OrphaCode: 139030
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Cutis laxa-Marfanoid syndrome
OrphaCode: 171719
DisorderType: Malformation syndrome
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Marfanoid habitus-inguinal hernia-advanced bone age syndrome
OrphaCode: 314041
DisorderType: Malformation syndrome
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Genetic central nervous system malformation
OrphaCode: 183506
DisorderType: Category
Children: Name: Genetic non-syndromic central nervous system malformation
OrphaCode: 269550
DisorderType: Category
Children: Name: Congenital hydrocephalus
OrphaCode: 2185
DisorderType: Malformation syndrome
Children: Name: Congenital communicating hydrocephalus
OrphaCode: 269505
DisorderType: Clinical subtype
Name: Congenital non-communicating hydrocephalus
OrphaCode: 269510
DisorderType: Clinical subtype
Name: Neural tube defect
OrphaCode: 3388
DisorderType: Category
Children: Name: Neural tube closure defect
OrphaCode: 268357
DisorderType: Category
Children: Name: Spina bifida and other spinal dysraphisms
OrphaCode: 823
DisorderType: Category
Children: Name: Open spinal dysraphism
OrphaCode: 268369
DisorderType: Clinical group
Children: Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Myeloschisis
OrphaCode: 645398
DisorderType: Morphological anomaly
Children: Name: True myeloschisis
OrphaCode: 645401
DisorderType: Clinical subtype
Name: Hemi-myeloschisis
OrphaCode: 645393
DisorderType: Clinical subtype
Name: Spinal dysraphism with a posterior meningocele
OrphaCode: 268744
DisorderType: Clinical group
Children: Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Closed spinal dysraphism
OrphaCode: 645202
DisorderType: Clinical group
Children: Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Dysraphism with stalk
OrphaCode: 645193
DisorderType: Clinical group
Children: Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal dermal sinus
OrphaCode: 645188
DisorderType: Morphological anomaly
Name: Limited dorsal myeloschisis
OrphaCode: 645196
DisorderType: Clinical group
Children: Name: Non-saccular limited dorsal myeloschisis
OrphaCode: 645343
DisorderType: Morphological anomaly
Children: Name: Fibroneural non-saccular limited dorsal myeloschisis
OrphaCode: 645310
DisorderType: Histopathological subtype
Name: Lipomatous non-saccular limited dorsal myeloschisis
OrphaCode: 645300
DisorderType: Histopathological subtype
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Anomaly of the filum
OrphaCode: 645282
DisorderType: Clinical group
Children: Name: Fibrolipomatous filum anomaly
OrphaCode: 645279
DisorderType: Clinical group
Children: Name: Isolated filum lipoma
OrphaCode: 645325
DisorderType: Morphological anomaly
Name: Isolated transitional filum lipoma
OrphaCode: 645322
DisorderType: Morphological anomaly
Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal cord lipoma
OrphaCode: 645276
DisorderType: Clinical group
Children: Name: Intramedullary non-dysraphic spinal cord lipoma
OrphaCode: 645359
DisorderType: Morphological anomaly
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Malformation of the neurenteric canal, spinal cord and column
OrphaCode: 268843
DisorderType: Category
Children: Name: Craniorachischisis
OrphaCode: 63260
DisorderType: Morphological anomaly
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Iniencephaly
OrphaCode: 63259
DisorderType: Morphological anomaly
Children: Name: Open iniencephaly
OrphaCode: 268363
DisorderType: Clinical subtype
Name: Closed iniencephaly
OrphaCode: 268366
DisorderType: Clinical subtype
Name: Cephalocele
OrphaCode: 268817
DisorderType: Clinical group
Children: Name: Isolated encephalocele
OrphaCode: 199647
DisorderType: Morphological anomaly
Children: Name: Parietal encephalocele
OrphaCode: 268826
DisorderType: Clinical subtype
Name: Basal encephalocele
OrphaCode: 268829
DisorderType: Clinical subtype
Name: Frontal encephalocele
OrphaCode: 1931
DisorderType: Clinical subtype
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Occipital encephalocele
OrphaCode: 268823
DisorderType: Clinical subtype
Name: Cranial meningocele
OrphaCode: 268820
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Lateral meningocele syndrome
OrphaCode: 2789
DisorderType: Malformation syndrome
Name: Primary syringomyelia
OrphaCode: 99856
DisorderType: Morphological anomaly
Children: Name: Idiopathic syringomyelia
OrphaCode: 99858
DisorderType: Clinical subtype
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Primary tethered cord syndrome
OrphaCode: 268861
DisorderType: Morphological anomaly
Name: Neurenteric cyst
OrphaCode: 268865
DisorderType: Morphological anomaly
Name: Isolated amyelia
OrphaCode: 268868
DisorderType: Morphological anomaly
Name: Arnold-Chiari malformation type I
OrphaCode: 268882
DisorderType: Morphological anomaly
Name: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
OrphaCode: 397927
DisorderType: Malformation syndrome
Name: Arachnoid cyst
OrphaCode: 2356
DisorderType: Morphological anomaly
Name: Cranial nerve and nuclear aplasia
OrphaCode: 98518
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Congenital achiasma
OrphaCode: 324353
DisorderType: Morphological anomaly
Name: Genetic cerebral malformation
OrphaCode: 269553
DisorderType: Category
Children: Name: Midline cerebral malformation
OrphaCode: 268926
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Aprosencephaly cerebellar dysgenesis
OrphaCode: 1126
DisorderType: Malformation syndrome
Name: Duplication of the pituitary gland
OrphaCode: 314621
DisorderType: Morphological anomaly
Name: Microform holoprosencephaly
OrphaCode: 280200
DisorderType: Malformation syndrome
Name: Encephaloclastic disorder
OrphaCode: 269190
DisorderType: Clinical group
Children: Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Hydranencephaly
OrphaCode: 2177
DisorderType: Malformation syndrome
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Diencephalic-mesencephalic junction dysplasia
OrphaCode: 319192
DisorderType: Morphological anomaly
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Isolated congenital microcephaly
OrphaCode: 199642
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Isolated megalencephaly
OrphaCode: 268920
DisorderType: Clinical subtype
Name: Genetic posterior fossa malformation
OrphaCode: 269557
DisorderType: Category
Children: Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Genetic cerebellar malformation
OrphaCode: 269560
DisorderType: Category
Children: Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Hydrocephaly-cerebellar agenesis syndrome
OrphaCode: 1397
DisorderType: Malformation syndrome
Name: Isolated Dandy-Walker malformation
OrphaCode: 217
DisorderType: Morphological anomaly
Children: Name: Isolated Dandy-Walker malformation with hydrocephalus
OrphaCode: 269212
DisorderType: Clinical subtype
Name: Isolated Dandy-Walker malformation without hydrocephalus
OrphaCode: 269215
DisorderType: Clinical subtype
Name: Dermoid or epidermoid cyst of the central nervous system
OrphaCode: 530033
DisorderType: Morphological anomaly
Name: Genetic syndrome with a central nervous system malformation as a major feature
OrphaCode: 269564
DisorderType: Category
Children: Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Fowler vasculopathy
OrphaCode: 221126
DisorderType: Malformation syndrome
Name: Progressive cerebello-cerebral atrophy
OrphaCode: 247198
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Syndrome with microcephaly as a major feature
OrphaCode: 269528
DisorderType: Category
Children: Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Amish lethal microcephaly
OrphaCode: 99742
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OrphaCode: 402364
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Genetic syndrome with a cerebellar malformation as a major feature
OrphaCode: 269567
DisorderType: Category
Children: Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Genetic syndrome with a Dandy-Walker malformation as a major feature
OrphaCode: 269570
DisorderType: Category
Children: Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
OrphaCode: 269573
DisorderType: Category
Children: Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Porencephaly-microcephaly-bilateral congenital cataract syndrome
OrphaCode: 306547
DisorderType: Malformation syndrome
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Hydrocephaly-low insertion umbilicus syndrome
OrphaCode: 2184
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: Genetic multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 183533
DisorderType: Category
Children: Name: Genetic lethal multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 471383
DisorderType: Category
Children: Name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
OrphaCode: 2570
DisorderType: Malformation syndrome
Name: Lethal multiple pterygium syndrome
OrphaCode: 33108
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Thakker-Donnai syndrome
OrphaCode: 1780
DisorderType: Malformation syndrome
Name: Edinburgh malformation syndrome
OrphaCode: 1895
DisorderType: Malformation syndrome
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Lethal polymalformative syndrome, Boissel type
OrphaCode: 210144
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: PAICS deficiency
OrphaCode: 633099
DisorderType: Malformation syndrome
Name: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
OrphaCode: 330206
DisorderType: Category
Children: Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Dysmorphism-pectus carinatum-joint laxity syndrome
OrphaCode: 2104
DisorderType: Malformation syndrome
Name: Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
OrphaCode: 643503
DisorderType: Disease
Name: Cardiac-urogenital syndrome
OrphaCode: 647811
DisorderType: Disease
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: Flat face-microstomia-ear anomaly syndrome
OrphaCode: 1968
DisorderType: Malformation syndrome
Name: Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
OrphaCode: 1969
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Acro-renal-mandibular syndrome
OrphaCode: 958
DisorderType: Malformation syndrome
Name: Acro-renal-ocular syndrome
OrphaCode: 959
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Anonychia-microcephaly syndrome
OrphaCode: 1094
DisorderType: Malformation syndrome
Name: Anophthalmia plus syndrome
OrphaCode: 1104
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Beemer-Ertbruggen syndrome
OrphaCode: 1237
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 1
OrphaCode: 1327
DisorderType: Malformation syndrome
Name: Pentalogy of Cantrell
OrphaCode: 1335
DisorderType: Malformation syndrome
Name: Heart defect-tongue hamartoma-polysyndactyly syndrome
OrphaCode: 1338
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Cataract-aberrant oral frenula-growth delay syndrome
OrphaCode: 1373
DisorderType: Malformation syndrome
Name: Night blindness-skeletal anomalies-dysmorphism syndrome
OrphaCode: 1390
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofacial-deafness-hand syndrome
OrphaCode: 1529
DisorderType: Malformation syndrome
Name: Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
OrphaCode: 1547
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Alar cartilages hypoplasia-coloboma-telecanthus syndrome
OrphaCode: 2007
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-facial dysmorphism syndrome
OrphaCode: 2025
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
OrphaCode: 2064
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Multinodular goiter-cystic kidney-polydactyly syndrome
OrphaCode: 2091
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Short stature-craniofacial anomalies-genital hypoplasia syndrome
OrphaCode: 2994
DisorderType: Malformation syndrome
Name: Diaphragmatic defect-limb deficiency-skull defect syndrome
OrphaCode: 2141
DisorderType: Malformation syndrome
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrocephaly-tall stature-joint laxity syndrome
OrphaCode: 2181
DisorderType: Malformation syndrome
Name: Hypertelorism-hypospadias-polysyndactyly syndrome
OrphaCode: 2211
DisorderType: Malformation syndrome
Name: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
OrphaCode: 2252
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Schilbach-Rott syndrome
OrphaCode: 2353
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Dislocation of the hip-dysmorphism syndrome
OrphaCode: 2412
DisorderType: Malformation syndrome
Name: Czeizel-Losonci syndrome
OrphaCode: 2437
DisorderType: Malformation syndrome
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: McKusick-Kaufman syndrome
OrphaCode: 2473
DisorderType: Malformation syndrome
Name: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Müllerian duct anomalies-limb anomalies syndrome
OrphaCode: 2491
DisorderType: Malformation syndrome
Name: Microcephaly-albinism-digital anomalies syndrome
OrphaCode: 2513
DisorderType: Malformation syndrome
Name: Microcephaly-cardiac defect-lung malsegmentation syndrome
OrphaCode: 2516
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Median nodule of the upper lip
OrphaCode: 2699
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Short tarsus-absence of lower eyelashes syndrome
OrphaCode: 2832
DisorderType: Malformation syndrome
Name: Short stature-valvular heart disease-characteristic facies syndrome
OrphaCode: 2868
DisorderType: Malformation syndrome
Name: PHAVER syndrome
OrphaCode: 2876
DisorderType: Malformation syndrome
Name: Polysyndactyly-cardiac malformation syndrome
OrphaCode: 2934
DisorderType: Malformation syndrome
Name: Autosomal dominant prognathism
OrphaCode: 2964
DisorderType: Malformation syndrome
Name: Autosomal recessive multiple pterygium syndrome
OrphaCode: 2990
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Deafness-craniofacial syndrome
OrphaCode: 3241
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Trigonocephaly-bifid nose-acral anomalies syndrome
OrphaCode: 3368
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
OrphaCode: 1101
DisorderType: Malformation syndrome
Name: Von Voss-Cherstvoy syndrome
OrphaCode: 3439
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Craniolenticulosutural dysplasia
OrphaCode: 50814
DisorderType: Malformation syndrome
Name: Braddock syndrome
OrphaCode: 52047
DisorderType: Malformation syndrome
Name: Branchiootic syndrome
OrphaCode: 52429
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Macrostomia-preauricular tags-external ophthalmoplegia syndrome
OrphaCode: 83619
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Pectus excavatum-macrocephaly-dysplastic nails syndrome
OrphaCode: 2835
DisorderType: Malformation syndrome
Name: 49,XYYYY syndrome
OrphaCode: 99330
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 2
OrphaCode: 137776
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 3
OrphaCode: 137783
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: 8q22.1 microdeletion syndrome
OrphaCode: 178303
DisorderType: Malformation syndrome
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: 14q22q23 microdeletion syndrome
OrphaCode: 264200
DisorderType: Malformation syndrome
Name: Warsaw breakage syndrome
OrphaCode: 280558
DisorderType: Malformation syndrome
Name: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
OrphaCode: 314002
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OrphaCode: 611327
DisorderType: Category
Children: Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
OrphaCode: 662829
DisorderType: Disease
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
OrphaCode: 662198
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Intellectual disability-cupped ears syndrome
OrphaCode: 656135
DisorderType: Disease
Name: CHD4-related neurodevelopmental disorder
OrphaCode: 653712
DisorderType: Disease
Name: Jansen-de Vries syndrome
OrphaCode: 653767
DisorderType: Disease
Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
OrphaCode: 658843
DisorderType: Disease
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662175
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
OrphaCode: 646278
DisorderType: Disease
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Cleft palate-congenital heart defect-intellectual disability syndrome
OrphaCode: 652519
DisorderType: Disease
Children: Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
OrphaCode: 652514
DisorderType: Clinical subtype
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
OrphaCode: 664430
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
OrphaCode: 2928
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Schimke type
OrphaCode: 85285
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stocco Dos Santos type
OrphaCode: 85288
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
OrphaCode: 85320
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Seemanova type
OrphaCode: 85323
DisorderType: Disease
Name: X-linked intellectual disability, Shrimpton type
OrphaCode: 85324
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
OrphaCode: 85327
DisorderType: Disease
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked intellectual disability, Nascimento type
OrphaCode: 163956
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-craniofacioskeletal syndrome
OrphaCode: 163979
DisorderType: Disease
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Holoprosencephaly-postaxial polydactyly syndrome
OrphaCode: 2166
DisorderType: Malformation syndrome
Name: Microcephaly-glomerulonephritis-marfanoid habitus syndrome
OrphaCode: 2172
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Marfanoid habitus-autosomal recessive intellectual disability syndrome
OrphaCode: 2463
DisorderType: Malformation syndrome
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Montreal type
OrphaCode: 2617
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Global developmental delay-osteopenia-ectodermal defect syndrome
OrphaCode: 73223
DisorderType: Malformation syndrome
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: S-adenosylhomocysteine hydrolase deficiency
OrphaCode: 88618
DisorderType: Disease
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
OrphaCode: 2958
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
OrphaCode: 314575
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Cerebrofacioarticular syndrome
OrphaCode: 314679
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Wiedemann-Steiner syndrome
OrphaCode: 319182
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
OrphaCode: 435938
DisorderType: Malformation syndrome
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
OrphaCode: 438213
DisorderType: Disease
Children: Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
OrphaCode: 438216
DisorderType: Etiological subtype
Name: PDE4D haploinsufficiency syndrome
OrphaCode: 439822
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
OrphaCode: 457279
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
OrphaCode: 457485
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome
OrphaCode: 464306
DisorderType: Malformation syndrome
Children: Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Intellectual disability syndrome due to a DYRK1A point mutation
OrphaCode: 464311
DisorderType: Etiological subtype
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
OrphaCode: 466791
DisorderType: Malformation syndrome
Name: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
OrphaCode: 466943
DisorderType: Malformation syndrome
Children: Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
OrphaCode: 466950
DisorderType: Clinical subtype
Name: White-Sutton syndrome
OrphaCode: 468678
DisorderType: Disease
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
OrphaCode: 476126
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
OrphaCode: 480907
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Pierpont syndrome
OrphaCode: 487825
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: TBCK-related intellectual disability syndrome
OrphaCode: 488632
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: RERE-related neurodevelopmental syndrome
OrphaCode: 494344
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: Witteveen-Kolk syndrome
OrphaCode: 500163
DisorderType: Malformation syndrome
Children: Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: SIN3-related intellectual disability syndrome due to a point mutation
OrphaCode: 500166
DisorderType: Etiological subtype
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Craniodigital-intellectual disability syndrome
OrphaCode: 1514
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
OrphaCode: 1825
DisorderType: Malformation syndrome
Name: Paraplegia-intellectual disability-hyperkeratosis syndrome
OrphaCode: 2824
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Fryns syndrome
OrphaCode: 2059
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Abidi type
OrphaCode: 85273
DisorderType: Malformation syndrome
Name: Syndromic X-linked intellectual disability 7
OrphaCode: 85274
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
OrphaCode: 85280
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stevenson type
OrphaCode: 85325
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Snyder type
OrphaCode: 3063
DisorderType: Disease
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Intellectual disability-expressive aphasia-facial dysmorphism syndrome
OrphaCode: 436151
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: Lamb-Shaffer syndrome
OrphaCode: 530983
DisorderType: Disease
Children: Name: Developmental and speech delay due to SOX5 deficiency
OrphaCode: 313892
DisorderType: Clinical subtype
Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Intellectual disability, Buenos-Aires type
OrphaCode: 3079
DisorderType: Malformation syndrome
Name: Intellectual disability, Wolff type
OrphaCode: 3080
DisorderType: Malformation syndrome
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Ruvalcaba syndrome
OrphaCode: 3121
DisorderType: Malformation syndrome
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Omphalocele syndrome, Shprintzen-Goldberg type
OrphaCode: 3164
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
OrphaCode: 1277
DisorderType: Malformation syndrome
Name: Facial dysmorphism-shawl scrotum-joint laxity syndrome
OrphaCode: 1778
DisorderType: Malformation syndrome
Name: Intellectual disability-short stature-hypertelorism syndrome
OrphaCode: 3074
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: Fryns-Smeets-Thiry syndrome
OrphaCode: 2058
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: Arachnodactyly-intellectual disability-dysmorphism syndrome
OrphaCode: 1130
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Pai type
OrphaCode: 85322
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stoll type
OrphaCode: 85326
DisorderType: Malformation syndrome
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Kagami-Ogata syndrome
OrphaCode: 254519
DisorderType: Malformation syndrome
Children: Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
OrphaCode: 254534
DisorderType: Etiological subtype
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Kleefstra syndrome
OrphaCode: 261494
DisorderType: Malformation syndrome
Children: Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Kleefstra syndrome due to a point mutation
OrphaCode: 261652
DisorderType: Etiological subtype
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
OrphaCode: 642763
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Prominent glabella-microcephaly-hypogenitalism syndrome
OrphaCode: 2083
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Preaxial polydactyly-colobomata-intellectual disability syndrome
OrphaCode: 2921
DisorderType: Malformation syndrome
Name: Nicolaides-Baraitser syndrome
OrphaCode: 3051
DisorderType: Malformation syndrome
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Intellectual disability-polydactyly-uncombable hair syndrome
OrphaCode: 3082
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: BRESEK syndrome
OrphaCode: 85284
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OrphaCode: 85317
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
OrphaCode: 85319
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
OrphaCode: 85329
DisorderType: Malformation syndrome
Name: Fried syndrome
OrphaCode: 85335
DisorderType: Malformation syndrome
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
OrphaCode: 502434
DisorderType: Malformation syndrome
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Gabriele-de Vries syndrome
OrphaCode: 506358
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
OrphaCode: 513456
DisorderType: Disease
Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
OrphaCode: 529965
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
OrphaCode: 599082
DisorderType: Malformation syndrome
Name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
OrphaCode: 600668
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Short stature-wormian bones-dextrocardia syndrome
OrphaCode: 2863
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
OrphaCode: 675782
DisorderType: Disease
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Pterygium colli-intellectual disability-digital anomalies syndrome
OrphaCode: 2988
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Fallot complex-intellectual disability-growth delay syndrome
OrphaCode: 3304
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Urban-Rogers-Meyer syndrome
OrphaCode: 3409
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
OrphaCode: 94066
DisorderType: Malformation syndrome
Name: Biemond syndrome type 2
OrphaCode: 141333
DisorderType: Disease
Name: Zechi-Ceide syndrome
OrphaCode: 217017
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Pseudoaminopterin syndrome
OrphaCode: 221120
DisorderType: Malformation syndrome
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
OrphaCode: 324416
DisorderType: Malformation syndrome
Name: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
OrphaCode: 324540
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Schuurs-Hoeijmakers syndrome
OrphaCode: 329224
DisorderType: Malformation syndrome
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Bainbridge-Ropers syndrome
OrphaCode: 352577
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
OrphaCode: 357175
DisorderType: Malformation syndrome
Name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
OrphaCode: 363444
DisorderType: Malformation syndrome
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: FOXP1 Syndrome
OrphaCode: 391372
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Cooper-Jabs syndrome
OrphaCode: 1488
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: Epilepsy-microcephaly-skeletal dysplasia syndrome
OrphaCode: 1948
DisorderType: Malformation syndrome
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Agnathia-holoprosencephaly-situs inversus syndrome
OrphaCode: 990
DisorderType: Malformation syndrome
Name: Hall-Riggs syndrome
OrphaCode: 2107
DisorderType: Malformation syndrome
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Hernández-Aguirre Negrete syndrome
OrphaCode: 2139
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Stimmler syndrome
OrphaCode: 3199
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Renpenning syndrome
OrphaCode: 3242
DisorderType: Malformation syndrome
Children: Name: X-linked intellectual disability, Porteous type
OrphaCode: 93945
DisorderType: Clinical subtype
Name: Hamel cerebro-palato-cardiac syndrome
OrphaCode: 93946
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Golabi-Ito-Hall type
OrphaCode: 93947
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Sutherland-Haan type
OrphaCode: 93950
DisorderType: Clinical subtype
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: CTCF-related neurodevelopmental disorder
OrphaCode: 363611
DisorderType: Disease
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OrphaCode: 363686
DisorderType: Disease
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: X-linked intellectual disability due to GRIA3 mutations
OrphaCode: 364028
DisorderType: Disease
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-facial dysmorphism-hand anomalies syndrome
OrphaCode: 370010
DisorderType: Malformation syndrome
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
OrphaCode: 391307
DisorderType: Malformation syndrome
Name: Macrocephaly-developmental delay syndrome
OrphaCode: 397612
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Microcephaly-thin corpus callosum-intellectual disability syndrome
OrphaCode: 397951
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
OrphaCode: 404440
DisorderType: Malformation syndrome
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: ADNP syndrome
OrphaCode: 404448
DisorderType: Malformation syndrome
Name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
OrphaCode: 404451
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive spastic diplegia syndrome
OrphaCode: 404473
DisorderType: Malformation syndrome
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Hennekam-Beemer syndrome
OrphaCode: 2135
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
OrphaCode: 2180
DisorderType: Malformation syndrome
Name: Isotretinoin-like syndrome
OrphaCode: 2306
DisorderType: Malformation syndrome
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
OrphaCode: 619233
DisorderType: Disease
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
OrphaCode: 662234
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Lujan-Fryns syndrome
OrphaCode: 776
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
OrphaCode: 1110
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: Atkin-Flaitz syndrome
OrphaCode: 1193
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Congenital intrauterine infection-like syndrome
OrphaCode: 1229
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Bonnemann-Meinecke-Reich syndrome
OrphaCode: 1261
DisorderType: Malformation syndrome
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Congenital heart defect-round face-developmental delay syndrome
OrphaCode: 1355
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: Short stature-webbed neck-heart disease syndrome
OrphaCode: 2865
DisorderType: Malformation syndrome
Name: Pfeiffer-Palm-Teller syndrome
OrphaCode: 2871
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Shashi type
OrphaCode: 85286
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Siderius type
OrphaCode: 85287
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cabezas type
OrphaCode: 85293
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: Genetic congenital limb malformation
OrphaCode: 183536
DisorderType: Category
Children: Name: Non-syndromic limb malformation
OrphaCode: 109011
DisorderType: Category
Children: Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Congenital deformities of limbs
OrphaCode: 294944
DisorderType: Category
Children: Name: Congenital vertical talus
OrphaCode: 178382
DisorderType: Morphological anomaly
Children: Name: Congenital vertical talus, unilateral
OrphaCode: 295201
DisorderType: Clinical subtype
Name: Congenital vertical talus, bilateral
OrphaCode: 295203
DisorderType: Clinical subtype
Name: Congenital deformities of fingers
OrphaCode: 294947
DisorderType: Category
Children: Name: Familial isolated clinodactyly of fingers
OrphaCode: 295014
DisorderType: Morphological anomaly
Name: Camptodactyly of fingers
OrphaCode: 295016
DisorderType: Morphological anomaly
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Congenital joint dislocations
OrphaCode: 294951
DisorderType: Category
Children: Name: True congenital shoulder dislocation
OrphaCode: 295030
DisorderType: Morphological anomaly
Name: Isolated congenital radial head dislocation
OrphaCode: 295032
DisorderType: Morphological anomaly
Children: Name: Congenital elbow dislocation, unilateral
OrphaCode: 295225
DisorderType: Clinical subtype
Name: Congenital elbow dislocation, bilateral
OrphaCode: 295227
DisorderType: Clinical subtype
Name: Congenital knee dislocation
OrphaCode: 295034
DisorderType: Morphological anomaly
Children: Name: Congenital genu recurvatum
OrphaCode: 295229
DisorderType: Clinical subtype
Name: Congenital genu flexum
OrphaCode: 295232
DisorderType: Clinical subtype
Name: Congenital patella dislocation
OrphaCode: 295036
DisorderType: Morphological anomaly
Name: Non-syndromic limb overgrowth
OrphaCode: 294953
DisorderType: Category
Children: Name: Macrodactyly of fingers
OrphaCode: 295044
DisorderType: Morphological anomaly
Children: Name: Macrodactyly of fingers, unilateral
OrphaCode: 295239
DisorderType: Clinical subtype
Name: Macrodactyly of fingers, bilateral
OrphaCode: 295241
DisorderType: Clinical subtype
Name: Macrodactyly of toes
OrphaCode: 295047
DisorderType: Morphological anomaly
Children: Name: Macrodactyly of toes, unilateral
OrphaCode: 295243
DisorderType: Clinical subtype
Name: Macrodactyly of toes, bilateral
OrphaCode: 295245
DisorderType: Clinical subtype
Name: Upper limb hypertrophy
OrphaCode: 295049
DisorderType: Morphological anomaly
Name: Lower limb hypertrophy
OrphaCode: 295051
DisorderType: Morphological anomaly
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Genetic syndrome with limb malformations as a major feature
OrphaCode: 404577
DisorderType: Category
Children: Name: Fetal encasement syndrome
OrphaCode: 465824
DisorderType: Malformation syndrome
Name: Camptodactyly-taurinuria syndrome
OrphaCode: 1325
DisorderType: Malformation syndrome
Name: Emery-Nelson syndrome
OrphaCode: 1927
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Extensor tendons of finger anomalies
OrphaCode: 3294
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Arthrogryposis syndrome
OrphaCode: 109007
DisorderType: Category
Children: Name: Distal arthrogryposis
OrphaCode: 97120
DisorderType: Clinical group
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Sheldon-Hall syndrome
OrphaCode: 1147
DisorderType: Malformation syndrome
Name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
OrphaCode: 1154
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OrphaCode: 1144
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Trismus-pseudocamptodactyly syndrome
OrphaCode: 3377
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Arthrogryposis-severe scoliosis syndrome
OrphaCode: 65720
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 10
OrphaCode: 251515
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 5D
OrphaCode: 329457
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Autosomal dominant multiple pterygium syndrome
OrphaCode: 65743
DisorderType: Malformation syndrome
Name: Multiple pterygium syndrome
OrphaCode: 294060
DisorderType: Clinical group
Children: Name: Autosomal recessive multiple pterygium syndrome
OrphaCode: 2990
DisorderType: Malformation syndrome
Name: Lethal multiple pterygium syndrome
OrphaCode: 33108
DisorderType: Malformation syndrome
Name: Autosomal dominant multiple pterygium syndrome
OrphaCode: 65743
DisorderType: Malformation syndrome
Name: X-linked lethal multiple pterygium syndrome
OrphaCode: 79447
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome
OrphaCode: 294965
DisorderType: Clinical group
Children: Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 2
OrphaCode: 137776
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 3
OrphaCode: 137783
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Arthrogryposis multiplex congenita
OrphaCode: 1037
DisorderType: Clinical group
Children: Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Neurogenic arthrogryposis multiplex congenita
OrphaCode: 1143
DisorderType: Disease
Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: Kuskokwim syndrome
OrphaCode: 1149
DisorderType: Malformation syndrome
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Arthrogryposis-hyperkeratosis syndrome, lethal form
OrphaCode: 1485
DisorderType: Malformation syndrome
Name: Hypomyelination neuropathy-arthrogryposis syndrome
OrphaCode: 2680
DisorderType: Malformation syndrome
Name: Arthrogryposis-anterior horn cell disease syndrome
OrphaCode: 53696
DisorderType: Malformation syndrome
Name: Autosomal recessive myogenic arthrogryposis multiplex congenita
OrphaCode: 319332
DisorderType: Disease
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Congenital lethal myopathy, Compton-North type
OrphaCode: 210163
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
OrphaCode: 498693
DisorderType: Disease
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Prenatal-onset spinal muscular atrophy with congenital bone fractures
OrphaCode: 486811
DisorderType: Disease
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Genetic syndrome with limb reduction defects
OrphaCode: 404574
DisorderType: Category
Children: Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: Genetic renal or urinary tract malformation
OrphaCode: 183539
DisorderType: Category
Children: Name: Syndromic renal or urinary tract malformation
OrphaCode: 93547
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Urofacial syndrome
OrphaCode: 2704
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Thyrocerebrorenal syndrome
OrphaCode: 3327
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Genetic non-syndromic renal or urinary tract malformation
OrphaCode: 357506
DisorderType: Category
Children: Name: Multicystic dysplastic kidney
OrphaCode: 1851
DisorderType: Morphological anomaly
Children: Name: Unilateral multicystic dysplastic kidney
OrphaCode: 97363
DisorderType: Clinical subtype
Name: Bilateral multicystic dysplastic kidney
OrphaCode: 97364
DisorderType: Clinical subtype
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Medullary sponge kidney
OrphaCode: 1309
DisorderType: Morphological anomaly
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Renal hypoplasia
OrphaCode: 93101
DisorderType: Morphological anomaly
Children: Name: Renal hypoplasia, unilateral
OrphaCode: 97361
DisorderType: Clinical subtype
Name: Renal hypoplasia, bilateral
OrphaCode: 97362
DisorderType: Clinical subtype
Name: Renal dysplasia
OrphaCode: 93108
DisorderType: Morphological anomaly
Children: Name: Renal dysplasia, unilateral
OrphaCode: 93172
DisorderType: Clinical subtype
Name: Renal dysplasia, bilateral
OrphaCode: 93173
DisorderType: Clinical subtype
Name: Renal tubular dysgenesis of genetic origin
OrphaCode: 97369
DisorderType: Etiological subtype
Name: Renal agenesis
OrphaCode: 411709
DisorderType: Morphological anomaly
Children: Name: Renal agenesis, bilateral
OrphaCode: 1848
DisorderType: Clinical subtype
Name: Renal agenesis, unilateral
OrphaCode: 93100
DisorderType: Clinical subtype
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Genetic cranial malformation
OrphaCode: 183542
DisorderType: Category
Children: Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Morgagni-Stewart-Morel syndrome
OrphaCode: 77296
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita
OrphaCode: 1114
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Genetic digestive tract malformation
OrphaCode: 183545
DisorderType: Category
Children: Name: Esophageal malformation
OrphaCode: 88993
DisorderType: Category
Children: Name: Non-syndromic esophageal malformation
OrphaCode: 108959
DisorderType: Category
Children: Name: Esophageal atresia
OrphaCode: 1199
DisorderType: Morphological anomaly
Name: Duplication of the esophagus
OrphaCode: 91357
DisorderType: Clinical group
Children: Name: Esophageal duplication cyst
OrphaCode: 100047
DisorderType: Morphological anomaly
Name: Tubular duplication of the esophagus
OrphaCode: 100048
DisorderType: Morphological anomaly
Name: Congenital esophageal diverticulum
OrphaCode: 91358
DisorderType: Morphological anomaly
Name: Congenital esophageal stenosis
OrphaCode: 645749
DisorderType: Morphological anomaly
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Isolated tracheoesophageal fistula
OrphaCode: 454750
DisorderType: Morphological anomaly
Name: Genetic syndromic esophageal malformation
OrphaCode: 371445
DisorderType: Category
Children: Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Achalasia-microcephaly syndrome
OrphaCode: 929
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
OrphaCode: 514352
DisorderType: Malformation syndrome
Name: Anorectal malformation
OrphaCode: 96346
DisorderType: Category
Children: Name: Non-syndromic anorectal malformation
OrphaCode: 557
DisorderType: Clinical group
Children: Name: Non-syndromic anorectal malformation with perineal fistula
OrphaCode: 600952
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectourethral fistula
OrphaCode: 600961
DisorderType: Morphological anomaly
Children: Name: Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
OrphaCode: 600966
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
OrphaCode: 600975
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectovesical fistula
OrphaCode: 600984
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with vestibular fistula
OrphaCode: 600993
DisorderType: Morphological anomaly
Name: Non-syndromic cloacal malformation
OrphaCode: 600998
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation without fistula
OrphaCode: 601002
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with anal stenosis
OrphaCode: 601008
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with pouch colon
OrphaCode: 601013
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal atresia
OrphaCode: 601018
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal stenosis
OrphaCode: 601023
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectovaginal fistula
OrphaCode: 601028
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with H-type fistula
OrphaCode: 601033
DisorderType: Morphological anomaly
Name: Syndromic anorectal malformation
OrphaCode: 117573
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Caudal duplication
OrphaCode: 1756
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: 6q terminal deletion syndrome
OrphaCode: 75857
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Ring chromosome 13 syndrome
OrphaCode: 96176
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 16
OrphaCode: 96185
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Gastroduodenal malformation
OrphaCode: 97944
DisorderType: Category
Children: Name: Non-syndromic gastroduodenal malformation
OrphaCode: 108963
DisorderType: Category
Children: Name: Gastric duplication
OrphaCode: 662376
DisorderType: Morphological anomaly
Name: Pyloric duplication
OrphaCode: 662405
DisorderType: Morphological anomaly
Name: Duodenal atresia
OrphaCode: 1203
DisorderType: Morphological anomaly
Name: Syndromic gastroduodenal malformation
OrphaCode: 108965
DisorderType: Category
Children: Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Intestinal malformation
OrphaCode: 97945
DisorderType: Category
Children: Name: Non-syndromic intestinal malformation
OrphaCode: 108967
DisorderType: Category
Children: Name: Rectal duplication
OrphaCode: 171220
DisorderType: Morphological anomaly
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Small bowel atresia
OrphaCode: 1201
DisorderType: Morphological anomaly
Name: Colonic atresia
OrphaCode: 1198
DisorderType: Morphological anomaly
Name: Congenital short bowel syndrome
OrphaCode: 2301
DisorderType: Morphological anomaly
Name: Small intestine duplication
OrphaCode: 662456
DisorderType: Morphological anomaly
Children: Name: Duodenal duplication
OrphaCode: 662473
DisorderType: Clinical subtype
Name: Jujeno-ileal duplication
OrphaCode: 662480
DisorderType: Clinical subtype
Name: Familial intestinal malrotation
OrphaCode: 508410
DisorderType: Morphological anomaly
Name: Colonic duplication
OrphaCode: 662392
DisorderType: Morphological anomaly
Name: Duodenal atresia
OrphaCode: 1203
DisorderType: Morphological anomaly
Name: Syndromic intestinal malformation
OrphaCode: 108969
DisorderType: Category
Children: Name: Rare disorder with Hirschsprung disease as a major feature
OrphaCode: 557866
DisorderType: Category
Children: Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Marfanoid syndrome, De Silva type
OrphaCode: 2464
DisorderType: Malformation syndrome
Name: Thoraco-abdominal enteric duplication
OrphaCode: 1759
DisorderType: Malformation syndrome
Name: Umbilical cord ulceration-intestinal atresia syndrome
OrphaCode: 3405
DisorderType: Malformation syndrome
Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
OrphaCode: 183548
DisorderType: Category
Children: Name: Non-syndromic visceral malformation
OrphaCode: 108971
DisorderType: Category
Children: Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Partial pancreatic agenesis
OrphaCode: 2805
DisorderType: Morphological anomaly
Name: Annular pancreas
OrphaCode: 675
DisorderType: Morphological anomaly
Name: Accessory pancreas
OrphaCode: 674
DisorderType: Morphological anomaly
Name: Familial isolated congenital asplenia
OrphaCode: 101351
DisorderType: Morphological anomaly
Name: Situs ambiguus
OrphaCode: 157769
DisorderType: Morphological anomaly
Name: Situs inversus totalis
OrphaCode: 101063
DisorderType: Morphological anomaly
Name: Gallbladder duplication
OrphaCode: 662388
DisorderType: Morphological anomaly
Name: Syndromic visceral malformation
OrphaCode: 108973
DisorderType: Category
Children: Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Right sided atrial isomerism
OrphaCode: 97548
DisorderType: Malformation syndrome
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Genetic respiratory or mediastinal malformation
OrphaCode: 183554
DisorderType: Category
Children: Name: Non-syndromic respiratory or mediastinal malformation
OrphaCode: 108993
DisorderType: Category
Children: Name: Congenital lobar emphysema
OrphaCode: 1928
DisorderType: Morphological anomaly
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Lung agenesis-heart defect-thumb anomalies syndrome
OrphaCode: 1120
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Primary pulmonary hypoplasia
OrphaCode: 2257
DisorderType: Morphological anomaly
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Genetic developmental defect of the eye
OrphaCode: 183557
DisorderType: Category
Children: Name: Anterior segment developmental anomaly
OrphaCode: 88632
DisorderType: Category
Name: Rare eyebrow/eyelash disorder
OrphaCode: 98594
DisorderType: Category
Children: Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Isolated distichiasis
OrphaCode: 99177
DisorderType: Morphological anomaly
Name: Anterior segment developmental anomaly of genetic origin
OrphaCode: 522540
DisorderType: Category
Children: Name: Anterior segment developmental abnormality with extraocular manifestations
OrphaCode: 519276
DisorderType: Category
Children: Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Syndromic aniridia
OrphaCode: 98557
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Lens size anomaly of genetic origin
OrphaCode: 522550
DisorderType: Category
Children: Name: Syndromic microspherophakia
OrphaCode: 519294
DisorderType: Category
Children: Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Primary early-onset glaucoma
OrphaCode: 156005
DisorderType: Clinical group
Children: Name: Congenital glaucoma
OrphaCode: 98976
DisorderType: Disease
Name: Juvenile glaucoma
OrphaCode: 98977
DisorderType: Disease
Name: Syndromic optic nerve hypoplasia
OrphaCode: 137905
DisorderType: Category
Children: Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Congenital optic disc excavation of genetic origin
OrphaCode: 522514
DisorderType: Category
Children: Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Coloboma of optic disc
OrphaCode: 98947
DisorderType: Morphological anomaly
Name: Familial cavitary optic disc anomaly
OrphaCode: 464760
DisorderType: Morphological anomaly
Name: Rare disorder with optic disc malformation
OrphaCode: 519345
DisorderType: Category
Children: Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
OrphaCode: 435930
DisorderType: Disease
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Rare genetic palpebral disorder
OrphaCode: 522526
DisorderType: Category
Children: Name: Congenital malformation of the eyelid
OrphaCode: 98561
DisorderType: Category
Children: Name: Cryptophthalmia
OrphaCode: 98562
DisorderType: Category
Children: Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Isolated cryptophthalmia
OrphaCode: 91396
DisorderType: Morphological anomaly
Children: Name: Congenital symblepharon
OrphaCode: 98948
DisorderType: Clinical subtype
Name: Complete cryptophthalmia
OrphaCode: 98949
DisorderType: Clinical subtype
Name: Partial cryptophthalmia
OrphaCode: 98950
DisorderType: Clinical subtype
Name: Microblepharon-ablephara syndrome
OrphaCode: 98563
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Eyelid border anomaly
OrphaCode: 98564
DisorderType: Category
Children: Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Syndromic ankyloblepharon filiforme adnatum
OrphaCode: 98565
DisorderType: Category
Children: Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Syndromic eyelid coloboma
OrphaCode: 98566
DisorderType: Category
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Coloboma of eyelid
OrphaCode: 98946
DisorderType: Morphological anomaly
Name: Congenital eyelid retraction
OrphaCode: 99176
DisorderType: Morphological anomaly
Name: Rare genetic eyelid malposition disorder
OrphaCode: 522528
DisorderType: Category
Children: Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Syndromic epicanthus
OrphaCode: 98574
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Syndromic telecanthus
OrphaCode: 98575
DisorderType: Category
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Syndromic outer canthal malposition
OrphaCode: 98576
DisorderType: Category
Children: Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Rare disorder with ptosis
OrphaCode: 98578
DisorderType: Category
Children: Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Ptosis-vocal cord paralysis syndrome
OrphaCode: 2997
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Congenital ptosis
OrphaCode: 91411
DisorderType: Disease
Name: Marcus-Gunn syndrome
OrphaCode: 91412
DisorderType: Disease
Children: Name: Inverse Marcus-Gunn phenomenon
OrphaCode: 98951
DisorderType: Clinical subtype
Name: Marin-Amat syndrome
OrphaCode: 101104
DisorderType: Clinical subtype
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Epiblepharon
OrphaCode: 99169
DisorderType: Morphological anomaly
Name: Euryblepharon
OrphaCode: 99172
DisorderType: Morphological anomaly
Name: Rare disorder with ectropion
OrphaCode: 519268
DisorderType: Category
Children: Name: Secondary ectropion
OrphaCode: 98571
DisorderType: Category
Children: Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Congenital ectropion
OrphaCode: 98570
DisorderType: Category
Children: Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Isolated congenital ectropion
OrphaCode: 99171
DisorderType: Morphological anomaly
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Rare genetic disorder with entropion
OrphaCode: 522530
DisorderType: Category
Children: Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Tarsal kink syndrome
OrphaCode: 99170
DisorderType: Morphological anomaly
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Lens position anomaly of genetic origin
OrphaCode: 522552
DisorderType: Category
Children: Name: Isolated ectopia lentis
OrphaCode: 1885
DisorderType: Malformation syndrome
Name: Syndromic genetic ectopia lentis
OrphaCode: 522554
DisorderType: Category
Children: Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
OrphaCode: 412022
DisorderType: Malformation syndrome
Name: Genetic congenital malformation of the eye with glaucoma as a major feature
OrphaCode: 525677
DisorderType: Category
Children: Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Iridocorneal endothelial syndrome
OrphaCode: 64734
DisorderType: Disease
Children: Name: Chandler syndrome
OrphaCode: 98979
DisorderType: Clinical subtype
Name: Cogan-Reese syndrome
OrphaCode: 98980
DisorderType: Clinical subtype
Name: Essential iris atrophy
OrphaCode: 98981
DisorderType: Clinical subtype
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
OrphaCode: 238763
DisorderType: Malformation syndrome
Name: Isolated optic nerve aplasia
OrphaCode: 637064
DisorderType: Morphological anomaly
Name: Congenital primary aphakia
OrphaCode: 83461
DisorderType: Malformation syndrome
Name: Lens shape anomaly
OrphaCode: 98655
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Coloboma of macula
OrphaCode: 98945
DisorderType: Morphological anomaly
Name: Structural developmental eye defect of genetic origin
OrphaCode: 522536
DisorderType: Category
Children: Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Microphthalmia-anophthalmia-coloboma
OrphaCode: 98555
DisorderType: Category
Children: Name: Isolated microphthalmia-anophthalmia-coloboma
OrphaCode: 2542
DisorderType: Clinical group
Children: Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia
OrphaCode: 98938
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia-anophthalmia-coloboma
OrphaCode: 202948
DisorderType: Category
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
OrphaCode: 251279
DisorderType: Disease
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia type 5
OrphaCode: 178364
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Oculoauricular syndrome, Schorderet type
OrphaCode: 157962
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Colobomatous macrophthalmia-microcornea syndrome
OrphaCode: 468672
DisorderType: Disease
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Coloboma of eye lens
OrphaCode: 98943
DisorderType: Morphological anomaly
Name: Corneodysgenesis
OrphaCode: 98635
DisorderType: Category
Children: Name: Isolated congenital megalocornea
OrphaCode: 91489
DisorderType: Morphological anomaly
Name: Isolated congenital sclerocornea
OrphaCode: 91490
DisorderType: Morphological anomaly
Name: Lacrimal drainage system anomaly of genetic origin
OrphaCode: 522534
DisorderType: Category
Children: Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Syndromic lacrimal system disorder
OrphaCode: 519274
DisorderType: Category
Children: Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Syndromic orbital border hypoplasia
OrphaCode: 98606
DisorderType: Malformation syndrome
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Coloboma of macula-brachydactyly type B syndrome
OrphaCode: 1471
DisorderType: Malformation syndrome
Name: Early onset non-syndromic cataract
OrphaCode: 91492
DisorderType: Disease
Children: Name: Early-onset partial cataract
OrphaCode: 98992
DisorderType: Clinical subtype
Children: Name: Pulverulent cataract
OrphaCode: 98984
DisorderType: Clinical subtype
Name: Early-onset anterior polar cataract
OrphaCode: 98988
DisorderType: Clinical subtype
Name: Cerulean cataract
OrphaCode: 98989
DisorderType: Clinical subtype
Name: Coralliform cataract
OrphaCode: 98990
DisorderType: Clinical subtype
Name: Early-onset posterior polar cataract
OrphaCode: 98993
DisorderType: Clinical subtype
Name: Early-onset zonular cataract
OrphaCode: 98995
DisorderType: Clinical subtype
Children: Name: Early-onset sutural cataract
OrphaCode: 98985
DisorderType: Clinical subtype
Name: Early-onset nuclear cataract
OrphaCode: 98991
DisorderType: Clinical subtype
Name: Early-onset lamellar cataract
OrphaCode: 441452
DisorderType: Clinical subtype
Name: Early-onset posterior subcapsular cataract
OrphaCode: 441447
DisorderType: Clinical subtype
Name: Total early-onset cataract
OrphaCode: 98994
DisorderType: Clinical subtype
Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Coloboma of choroid and retina
OrphaCode: 98942
DisorderType: Morphological anomaly
Name: Isolated optic nerve hypoplasia
OrphaCode: 637061
DisorderType: Morphological anomaly
Name: Genetic malformation syndrome with short stature
OrphaCode: 183570
DisorderType: Category
Children: Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: Mulibrey nanism
OrphaCode: 2576
DisorderType: Malformation syndrome
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: Noonan syndrome and Noonan-related syndrome
OrphaCode: 98733
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Short stature-optic atrophy-Pelger-Huët anomaly syndrome
OrphaCode: 391677
DisorderType: Malformation syndrome
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: Eng-Strom syndrome
OrphaCode: 1937
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Congenital generalized hypercontractile muscle stiffness syndrome
OrphaCode: 476406
DisorderType: Disease
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Genetic overgrowth/obesity syndrome
OrphaCode: 183573
DisorderType: Category
Children: Name: Genetic obesity
OrphaCode: 77828
DisorderType: Category
Children: Name: Genetic non-syndromic obesity
OrphaCode: 98267
DisorderType: Disease
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to congenital leptin resistance
OrphaCode: 179490
DisorderType: Etiological subtype
Children: Name: Obesity due to pro-opiomelanocortin deficiency
OrphaCode: 71526
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Obesity due to melanocortin 4 receptor deficiency
OrphaCode: 71529
DisorderType: Etiological subtype
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
OrphaCode: 329249
DisorderType: Etiological subtype
Name: Obesity due to SIM1 deficiency
OrphaCode: 369873
DisorderType: Etiological subtype
Name: Obesity due to CEP19 deficiency
OrphaCode: 397615
DisorderType: Etiological subtype
Name: Syndromic obesity
OrphaCode: 240371
DisorderType: Category
Children: Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: MOMO syndrome
OrphaCode: 2563
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
OrphaCode: 293987
DisorderType: Disease
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Overgrowth syndrome
OrphaCode: 93460
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Chromosomal disease with overgrowth
OrphaCode: 93461
DisorderType: Category
Children: Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: 4p16.3 microduplication syndrome
OrphaCode: 96072
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: Hypoinsulinemic hypoglycemia and body hemihypertrophy
OrphaCode: 293964
DisorderType: Disease
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: PIK3CA-related overgrowth syndrome
OrphaCode: 530313
DisorderType: Clinical group
Children: Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
OrphaCode: 314662
DisorderType: Disease
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Macrodactyly of fingers, unilateral
OrphaCode: 295239
DisorderType: Clinical subtype
Name: Macrodactyly of toes, unilateral
OrphaCode: 295243
DisorderType: Clinical subtype
Name: Congenital infiltrating lipomatosis of the face
OrphaCode: 583097
DisorderType: Disease
Name: CLAPO syndrome
OrphaCode: 168984
DisorderType: Malformation syndrome
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Genetic branchial arch or oral-acral syndrome
OrphaCode: 183576
DisorderType: Category
Children: Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
OrphaCode: 231742
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Genetic malformation syndrome with odontal and/or periodontal component
OrphaCode: 183580
DisorderType: Category
Children: Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Steroid dehydrogenase deficiency-dental anomalies syndrome
OrphaCode: 3196
DisorderType: Disease
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Jalili syndrome
OrphaCode: 1873
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft palate-stapes fixation-oligodontia syndrome
OrphaCode: 2010
DisorderType: Malformation syndrome
Name: Hereditary gingival fibromatosis
OrphaCode: 2024
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-facial dysmorphism syndrome
OrphaCode: 2025
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodental syndrome, Rutherfurd type
OrphaCode: 2709
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Odontomatosis-aortae esophagus stenosis syndrome
OrphaCode: 2724
DisorderType: Malformation syndrome
Name: Otodental syndrome
OrphaCode: 2791
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-dental and vertebral anomalies syndrome
OrphaCode: 2916
DisorderType: Malformation syndrome
Name: Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
OrphaCode: 2972
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Steatocystoma multiplex-natal teeth syndrome
OrphaCode: 3184
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Oculootodental syndrome
OrphaCode: 99806
DisorderType: Malformation syndrome
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Genetic head and neck malformation
OrphaCode: 183583
DisorderType: Category
Children: Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Macroglossia
OrphaCode: 156207
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Congenital macroglossia
OrphaCode: 2430
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Hemifacial hyperplasia
OrphaCode: 141145
DisorderType: Malformation syndrome
Name: Hemifacial myohyperplasia
OrphaCode: 141148
DisorderType: Malformation syndrome
Name: Hypoglossia/aglossia
OrphaCode: 156212
DisorderType: Category
Children: Name: Isolated congenital hypoglossia/aglossia
OrphaCode: 141152
DisorderType: Morphological anomaly
Children: Name: Isolated congenital hypoglossia
OrphaCode: 563954
DisorderType: Clinical subtype
Name: Isolated congenital aglossia
OrphaCode: 563951
DisorderType: Clinical subtype
Name: Oromandibular-limb anomalies syndrome
OrphaCode: 156215
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Paralytic facial malformation
OrphaCode: 156224
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Syndrome or malformation associated with head and neck malformations
OrphaCode: 156237
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Isolated Pierre Robin syndrome
OrphaCode: 718
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Orofacial clefting syndrome
OrphaCode: 139039
DisorderType: Category
Children: Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Cleft palate-large ears-small head syndrome
OrphaCode: 2013
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Dysraphism-cleft lip/palate-limb reduction defects syndrome
OrphaCode: 2476
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome-faciodigital anomaly syndrome
OrphaCode: 2888
DisorderType: Malformation syndrome
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Robin sequence-oligodactyly syndrome
OrphaCode: 3104
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Dysmorphism-cleft palate-loose skin syndrome
OrphaCode: 1779
DisorderType: Malformation syndrome
Name: Syngnathia-cleft palate syndrome
OrphaCode: 3263
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: X-linked cleft palate and ankyloglossia
OrphaCode: 324601
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Genetic syndromic Pierre Robin syndrome
OrphaCode: 363294
DisorderType: Category
Children: Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with collagen disease
OrphaCode: 138041
DisorderType: Category
Children: Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with a chromosomal anomaly
OrphaCode: 138047
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with branchial archs anomalies
OrphaCode: 138050
DisorderType: Category
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with bone disease
OrphaCode: 138055
DisorderType: Category
Children: Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Genetic facial cleft
OrphaCode: 414726
DisorderType: Category
Children: Name: Tessier number 4 facial cleft
OrphaCode: 141258
DisorderType: Morphological anomaly
Name: Lateral facial cleft
OrphaCode: 141269
DisorderType: Clinical group
Children: Name: Tessier number 7 facial cleft
OrphaCode: 141276
DisorderType: Morphological anomaly
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Familial median cleft of the upper and lower lips
OrphaCode: 401942
DisorderType: Malformation syndrome
Name: Genetic otorhinolaryngological malformation
OrphaCode: 435603
DisorderType: Category
Children: Name: Pinnae and external auditory canal anomaly
OrphaCode: 156243
DisorderType: Category
Children: Name: Microtia
OrphaCode: 83463
DisorderType: Morphological anomaly
Name: Anotia
OrphaCode: 93976
DisorderType: Morphological anomaly
Name: External auditory canal aplasia/hypoplasia
OrphaCode: 141074
DisorderType: Morphological anomaly
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Genetic nose and cavum anomaly
OrphaCode: 435606
DisorderType: Category
Children: Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Genetic larynx anomaly
OrphaCode: 435609
DisorderType: Category
Children: Name: Congenital laryngomalacia
OrphaCode: 2373
DisorderType: Malformation syndrome
Name: Isolated congenital laryngeal web
OrphaCode: 2374
DisorderType: Malformation syndrome
Name: Larynx atresia
OrphaCode: 1202
DisorderType: Malformation syndrome
Name: Congenital velopharyngeal incompetence
OrphaCode: 2291
DisorderType: Morphological anomaly
Name: Laryngeal abductor paralysis
OrphaCode: 2808
DisorderType: Malformation syndrome
Name: Genetic tracheal anomaly
OrphaCode: 435612
DisorderType: Category
Children: Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Congenital tracheal stenosis
OrphaCode: 141127
DisorderType: Morphological anomaly
Name: Genetic vascular anomaly
OrphaCode: 211240
DisorderType: Category
Children: Name: Cerebral arteriovenous malformation
OrphaCode: 46724
DisorderType: Morphological anomaly
Name: Rare genetic capillary malformation
OrphaCode: 459526
DisorderType: Category
Children: Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Familial multiple nevi flammei
OrphaCode: 624
DisorderType: Morphological anomaly
Name: Rare capillary malformation with associated anomalies
OrphaCode: 458830
DisorderType: Category
Children: Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Primary lymphedema
OrphaCode: 77240
DisorderType: Category
Children: Name: Primary lymphedema without systemic or visceral involvement
OrphaCode: 568041
DisorderType: Category
Children: Name: Congenital primary lymphedema without systemic or visceral involvement
OrphaCode: 2416
DisorderType: Clinical group
Children: Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Milroy disease
OrphaCode: 79452
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Congenital primary lymphedema of Gordon
OrphaCode: 569821
DisorderType: Disease
Name: Late-onset primary lymphedema without systemic or visceral involvement
OrphaCode: 289825
DisorderType: Clinical group
Children: Name: GJC2-related late-onset primary lymphedema
OrphaCode: 568051
DisorderType: Disease
Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: CELSR1-related late-onset primary lymphedema
OrphaCode: 569816
DisorderType: Disease
Name: Meige disease
OrphaCode: 90186
DisorderType: Disease
Name: Primary lymphedema with systemic or visceral involvement
OrphaCode: 568044
DisorderType: Category
Children: Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Lymphedema-atrial septal defects-facial changes syndrome
OrphaCode: 86915
DisorderType: Malformation syndrome
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
OrphaCode: 568062
DisorderType: Disease
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Disorder with multisystemic involvement and primary lymphedema
OrphaCode: 568047
DisorderType: Category
Children: Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: Genetic complex vascular malformation with associated anomalies
OrphaCode: 459537
DisorderType: Category
Children: Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Rare genetic vascular tumor
OrphaCode: 459543
DisorderType: Category
Children: Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Pseudomyogenic hemangioendothelioma
OrphaCode: 673556
DisorderType: Disease
Name: Tufted angioma
OrphaCode: 1063
DisorderType: Disease
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Epithelioid hemangioendothelioma
OrphaCode: 157791
DisorderType: Disease
Name: Anastomosing haemangioma
OrphaCode: 675359
DisorderType: Disease
Name: Epithelioid hemangioma
OrphaCode: 675396
DisorderType: Disease
Name: Capillary malformation-arteriovenous malformation
OrphaCode: 137667
DisorderType: Malformation syndrome
Name: Rare genetic venous malformation
OrphaCode: 459548
DisorderType: Category
Children: Name: Mucocutaneous venous malformations
OrphaCode: 2451
DisorderType: Malformation syndrome
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Familial cerebral cavernous malformation
OrphaCode: 221061
DisorderType: Malformation syndrome
Name: Glomuvenous malformation
OrphaCode: 83454
DisorderType: Malformation syndrome
Name: Familial patent arterial duct
OrphaCode: 466729
DisorderType: Morphological anomaly
Name: Vein of Galen aneurysmal malformation
OrphaCode: 1053
DisorderType: Morphological anomaly
Name: Genetic cardiac anomaly
OrphaCode: 271853
DisorderType: Category
Children: Name: Interatrial communication
OrphaCode: 1478
DisorderType: Morphological anomaly
Children: Name: Atrial septal defect, ostium secundum type
OrphaCode: 99103
DisorderType: Clinical subtype
Name: Atrial septal defect, coronary sinus type
OrphaCode: 99104
DisorderType: Clinical subtype
Name: Atrial septal defect, sinus venosus type
OrphaCode: 99105
DisorderType: Clinical subtype
Name: Atrial septal defect, ostium primum type
OrphaCode: 99106
DisorderType: Clinical subtype
Name: Supravalvular aortic stenosis
OrphaCode: 3193
DisorderType: Morphological anomaly
Name: Left sided atrial isomerism
OrphaCode: 566862
DisorderType: Malformation syndrome
Name: Double outlet right ventricle
OrphaCode: 3426
DisorderType: Morphological anomaly
Children: Name: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
OrphaCode: 99043
DisorderType: Clinical subtype
Name: Double outlet right ventricle with subpulmonary ventricular septal defect
OrphaCode: 99045
DisorderType: Clinical subtype
Name: Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
OrphaCode: 99046
DisorderType: Clinical subtype
Name: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
OrphaCode: 423693
DisorderType: Clinical subtype
Name: Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
OrphaCode: 423712
DisorderType: Clinical subtype
Name: Congenitally uncorrected transposition of the great arteries
OrphaCode: 860
DisorderType: Morphological anomaly
Children: Name: Congenitally uncorrected transposition of the great arteries with coarctation
OrphaCode: 99042
DisorderType: Clinical subtype
Name: Isolated congenitally uncorrected transposition of the great arteries
OrphaCode: 216718
DisorderType: Clinical subtype
Name: Congenitally uncorrected transposition of the great arteries with cardiac malformation
OrphaCode: 216729
DisorderType: Clinical subtype
Name: Situs inversus totalis
OrphaCode: 101063
DisorderType: Morphological anomaly
Name: Situs ambiguus
OrphaCode: 157769
DisorderType: Morphological anomaly
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Familial patent arterial duct
OrphaCode: 466729
DisorderType: Morphological anomaly
Name: Right sided atrial isomerism
OrphaCode: 97548
DisorderType: Malformation syndrome
Name: Atrioventricular septal defect
OrphaCode: 98722
DisorderType: Clinical group
Children: Name: Complete atrioventricular septal defect
OrphaCode: 1329
DisorderType: Morphological anomaly
Children: Name: Complete atrioventricular septal defect-tetralogy of Fallot
OrphaCode: 99068
DisorderType: Clinical subtype
Name: Complete atrioventricular septal defect with ventricular hypoplasia
OrphaCode: 99067
DisorderType: Clinical subtype
Name: Complete atrioventricular septal defect without ventricular hypoplasia
OrphaCode: 576227
DisorderType: Clinical subtype
Name: Partial atrioventricular septal defect
OrphaCode: 1330
DisorderType: Morphological anomaly
Children: Name: Partial atrioventricular septal defect without ventricular hypoplasia
OrphaCode: 576235
DisorderType: Clinical subtype
Name: Partial atrioventricular septal defect with ventricular hypoplasia
OrphaCode: 576232
DisorderType: Clinical subtype
Name: Intermediate atrioventricular septal defect
OrphaCode: 576242
DisorderType: Morphological anomaly
Name: Familial mitral valve prolapse
OrphaCode: 741
DisorderType: Morphological anomaly
Name: Familial omphalocele syndrome with facial dysmorphism
OrphaCode: 280403
DisorderType: Malformation syndrome
Name: Genetic difference of sex development
OrphaCode: 325690
DisorderType: Category
Children: Name: Sex chromosome difference of sex development
OrphaCode: 325546
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Genetic 46,XX difference of sex development
OrphaCode: 325697
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX disorder of gonadal development
OrphaCode: 325055
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Syndrome with 46,XX difference of sex development
OrphaCode: 325109
DisorderType: Category
Children: Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: SERKAL syndrome
OrphaCode: 139466
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Genetic 46,XY difference of sex development
OrphaCode: 325706
DisorderType: Category
Children: Name: Syndrome with 46,XY difference of sex development
OrphaCode: 98087
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: 46,XY disorder of gonadal development
OrphaCode: 325118
DisorderType: Category
Children: Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: Genetic 46,XY difference of sex development of endocrine origin
OrphaCode: 325713
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: Genetic progeroid syndrome
OrphaCode: 363245
DisorderType: Category
Children: Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Atypical Werner syndrome
OrphaCode: 79474
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Acroosteolysis-keloid-like lesions-premature aging syndrome
OrphaCode: 363665
DisorderType: Disease
Name: Progeroid features-hepatocellular carcinoma predisposition syndrome
OrphaCode: 435953
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Rare genetic bone development disorder
OrphaCode: 404584
DisorderType: Category
Children: Name: Primary bone dysplasia
OrphaCode: 364526
DisorderType: Category
Children: Name: Genetic inflammatory or rheumatoid-like osteoarthropathy
OrphaCode: 498445
DisorderType: Category
Children: Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Overgrowth or tall stature syndrome with skeletal involvement
OrphaCode: 498448
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
OrphaCode: 498485
DisorderType: Malformation syndrome
Name: Kosaki overgrowth syndrome
OrphaCode: 477831
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with micromelia
OrphaCode: 364536
DisorderType: Category
Children: Name: Achondroplasia
OrphaCode: 15
DisorderType: Disease
Name: Hypochondroplasia
OrphaCode: 429
DisorderType: Disease
Name: Diastrophic dysplasia
OrphaCode: 628
DisorderType: Disease
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Otopalatodigital syndrome spectrum disorder
OrphaCode: 364541
DisorderType: Clinical group
Children: Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Frank-Ter Haar syndrome
OrphaCode: 137834
DisorderType: Disease
Name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OrphaCode: 435804
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OrphaCode: 253
DisorderType: Clinical group
Children: Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Hip dysplasia, Beukes type
OrphaCode: 2114
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Metatropic dysplasia
OrphaCode: 2635
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Spondyloperipheral dysplasia-short ulna syndrome
OrphaCode: 1856
DisorderType: Disease
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Brachydactylous dwarfism, Mseleni type
OrphaCode: 2619
DisorderType: Disease
Name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OrphaCode: 93279
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, PAPSS2 type
OrphaCode: 93282
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Kimberley type
OrphaCode: 93283
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda
OrphaCode: 93284
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
OrphaCode: 93346
DisorderType: Disease
Name: Anauxetic dysplasia
OrphaCode: 93347
DisorderType: Disease
Name: X-linked spondyloepimetaphyseal dysplasia
OrphaCode: 93349
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Irapa type
OrphaCode: 93351
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Shohat type
OrphaCode: 93352
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Missouri type
OrphaCode: 93356
DisorderType: Disease
Name: SPONASTRIME dysplasia
OrphaCode: 93357
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OrphaCode: 93358
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia congenita
OrphaCode: 94068
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Handigodu type
OrphaCode: 99642
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia with metatarsal shortening
OrphaCode: 137678
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, matrilin-3 type
OrphaCode: 156728
DisorderType: Disease
Name: Dyssegmental dysplasia, Rolland-Desbuquois type
OrphaCode: 156731
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
OrphaCode: 163654
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Reardon type
OrphaCode: 163662
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
OrphaCode: 168443
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
OrphaCode: 168451
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Geneviève type
OrphaCode: 168454
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, aggrecan type
OrphaCode: 171866
DisorderType: Disease
Name: Smith-McCort dysplasia
OrphaCode: 178355
DisorderType: Disease
Name: Spondylo-megaepiphyseal-metaphyseal dysplasia
OrphaCode: 228387
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Maroteaux type
OrphaCode: 263482
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OrphaCode: 370015
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, Stanescu type
OrphaCode: 459051
DisorderType: Disease
Name: Spondylometaphyseal dysplasia
OrphaCode: 254
DisorderType: Clinical group
Children: Name: Spondylometaphyseal dysplasia, A4 type
OrphaCode: 168555
DisorderType: Disease
Name: Regressive spondylometaphyseal dysplasia
OrphaCode: 448267
DisorderType: Malformation syndrome
Name: Spondyloenchondrodysplasia
OrphaCode: 1855
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Kozlowski type
OrphaCode: 93314
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, 'corner fracture' type
OrphaCode: 93315
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Schmidt type
OrphaCode: 93316
DisorderType: Disease
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Golden type
OrphaCode: 168544
DisorderType: Disease
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
OrphaCode: 168552
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Ciliopathies with major skeletal involvement
OrphaCode: 93426
DisorderType: Category
Children: Name: Short rib-polydactyly syndrome
OrphaCode: 1505
DisorderType: Clinical group
Children: Name: Short rib-polydactyly syndrome type 5
OrphaCode: 498497
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Beemer-Langer type
OrphaCode: 93268
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Majewski type
OrphaCode: 93269
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Thoracomelic dysplasia
OrphaCode: 1803
DisorderType: Disease
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: Multiple epiphyseal dysplasia and pseudoachondroplasia
OrphaCode: 93429
DisorderType: Category
Children: Name: Multiple epiphyseal dysplasia
OrphaCode: 251
DisorderType: Clinical group
Children: Name: Multiple epiphyseal dysplasia type 4
OrphaCode: 93307
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 1
OrphaCode: 93308
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 5
OrphaCode: 93311
DisorderType: Disease
Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
OrphaCode: 166002
DisorderType: Disease
Name: Multiple epiphyseal dysplasia, Lowry type
OrphaCode: 166016
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
OrphaCode: 166024
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
OrphaCode: 166029
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-miniepiphyses syndrome
OrphaCode: 166032
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 7
OrphaCode: 647676
DisorderType: Disease
Name: Lowry-Wood syndrome
OrphaCode: 1824
DisorderType: Disease
Name: Pseudoachondroplasia
OrphaCode: 750
DisorderType: Disease
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Multiple metaphyseal dysplasia
OrphaCode: 93430
DisorderType: Clinical group
Children: Name: Metaphyseal anadysplasia
OrphaCode: 1040
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Schmid type
OrphaCode: 174
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Rosenberg type
OrphaCode: 1837
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Spahr type
OrphaCode: 2501
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
OrphaCode: 2504
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Jansen type
OrphaCode: 33067
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Kaitila type
OrphaCode: 166038
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Spondylodysplastic dysplasia
OrphaCode: 93434
DisorderType: Clinical group
Children: Name: SBDS-related severe neonatal spondylometaphyseal dysplasia
OrphaCode: 622934
DisorderType: Malformation syndrome
Name: Opsismodysplasia
OrphaCode: 2746
DisorderType: Disease
Name: Achondrogenesis
OrphaCode: 932
DisorderType: Disease
Children: Name: Achondrogenesis type 2
OrphaCode: 93296
DisorderType: Clinical subtype
Name: Hypochondrogenesis
OrphaCode: 93297
DisorderType: Clinical subtype
Name: Achondrogenesis type 1B
OrphaCode: 93298
DisorderType: Clinical subtype
Name: Achondrogenesis type 1A
OrphaCode: 93299
DisorderType: Clinical subtype
Name: Brachyolmia
OrphaCode: 1293
DisorderType: Clinical group
Children: Name: Autosomal recessive brachyolmia
OrphaCode: 448242
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Brachyolmia, Maroteaux type
OrphaCode: 93302
DisorderType: Malformation syndrome
Name: Autosomal dominant brachyolmia
OrphaCode: 93304
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Spondylocamptodactyly syndrome
OrphaCode: 3180
DisorderType: Malformation syndrome
Name: Spondylocarpotarsal synostosis
OrphaCode: 3275
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Platyspondylic dysplasia, Torrance type
OrphaCode: 85166
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Sedaghatian type
OrphaCode: 93317
DisorderType: Malformation syndrome
Name: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
OrphaCode: 401979
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Acromelic dysplasia
OrphaCode: 93436
DisorderType: Clinical group
Children: Name: MIR140-related spondyloepiphyseal dysplasia
OrphaCode: 623695
DisorderType: Malformation syndrome
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Acromicric dysplasia
OrphaCode: 969
DisorderType: Malformation syndrome
Name: Geleophysic dysplasia
OrphaCode: 2623
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Angel-shaped phalango-epiphyseal dysplasia
OrphaCode: 63442
DisorderType: Malformation syndrome
Name: Acrocapitofemoral dysplasia
OrphaCode: 63446
DisorderType: Malformation syndrome
Name: Craniofacial conodysplasia
OrphaCode: 85168
DisorderType: Malformation syndrome
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia
OrphaCode: 93437
DisorderType: Clinical group
Children: Name: Acromesomelic dysplasia, Hunter-Thompson type
OrphaCode: 968
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Maroteaux type
OrphaCode: 40
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Grebe type
OrphaCode: 2098
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Mesomelic and rhizo-mesomelic dysplasia
OrphaCode: 93438
DisorderType: Clinical group
Children: Name: Léri-Weill dyschondrosteosis
OrphaCode: 240
DisorderType: Malformation syndrome
Name: Cleidorhizomelic syndrome
OrphaCode: 1453
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Kantaputra type
OrphaCode: 1836
DisorderType: Malformation syndrome
Name: Fibrochondrogenesis
OrphaCode: 2021
DisorderType: Disease
Name: Upper limb mesomelic dysplasia, type Fryns
OrphaCode: 2497
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Langer mesomelic dysplasia
OrphaCode: 2632
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Nievergelt type
OrphaCode: 2633
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism, Reinhardt-Pfeiffer type
OrphaCode: 2634
DisorderType: Malformation syndrome
Name: Omodysplasia
OrphaCode: 2733
DisorderType: Malformation syndrome
Children: Name: Autosomal dominant omodysplasia
OrphaCode: 93328
DisorderType: Clinical subtype
Name: Autosomal recessive omodysplasia
OrphaCode: 93329
DisorderType: Clinical subtype
Name: Rhizomelic syndrome, Urbach type
OrphaCode: 3098
DisorderType: Malformation syndrome
Name: Rhizomelic dysplasia, Patterson-Lowry type
OrphaCode: 2831
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Savarirayan type
OrphaCode: 85170
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: SHOX-related short stature
OrphaCode: 314795
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: Campomelic dysplasia and related disorders
OrphaCode: 93439
DisorderType: Clinical group
Children: Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Kyphomelic dysplasia
OrphaCode: 1801
DisorderType: Malformation syndrome
Name: Blount disease
OrphaCode: 2768
DisorderType: Malformation syndrome
Name: Weismann-Netter syndrome
OrphaCode: 3344
DisorderType: Malformation syndrome
Name: Stüve-Wiedemann syndrome
OrphaCode: 3206
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
OrphaCode: 324307
DisorderType: Malformation syndrome
Name: Slender bone dysplasia
OrphaCode: 93440
DisorderType: Clinical group
Children: Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OrphaCode: 314394
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Thin ribs-tubular bones-dysmorphism syndrome
OrphaCode: 1506
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Primary bone dysplasia with multiple joint dislocations
OrphaCode: 93441
DisorderType: Clinical group
Children: Name: Larsen-like osseous dysplasia-short stature syndrome
OrphaCode: 2370
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Auriculoosteodysplasia
OrphaCode: 114
DisorderType: Malformation syndrome
Name: Boomerang dysplasia
OrphaCode: 1263
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Coxoauricular syndrome
OrphaCode: 1508
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: Chondrodysplasia with joint dislocations, gPAPP type
OrphaCode: 280586
DisorderType: Malformation syndrome
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Steel syndrome
OrphaCode: 438117
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: Chondrodysplasia punctata
OrphaCode: 93442
DisorderType: Clinical group
Children: Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Non-rhizomelic chondrodysplasia punctata
OrphaCode: 176
DisorderType: Clinical group
Children: Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Brachytelephalangic chondrodysplasia punctata
OrphaCode: 79345
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, tibial-metacarpal type
OrphaCode: 79346
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, Toriello type
OrphaCode: 79347
DisorderType: Malformation syndrome
Name: Astley-Kendall dysplasia
OrphaCode: 85175
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with increased bone density
OrphaCode: 93444
DisorderType: Category
Children: Name: Juvenile Paget disease
OrphaCode: 2801
DisorderType: Malformation syndrome
Name: Camurati-Engelmann disease
OrphaCode: 1328
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Craniofacial dysostosis-diaphyseal hyperplasia syndrome
OrphaCode: 1798
DisorderType: Malformation syndrome
Name: Ghosal hematodiaphyseal dysplasia
OrphaCode: 1802
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Endosteal hyperostosis, Worth type
OrphaCode: 2790
DisorderType: Malformation syndrome
Name: Pyle disease
OrphaCode: 3005
DisorderType: Disease
Name: Sclerosteosis
OrphaCode: 3152
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Hyperostosis corticalis generalisata
OrphaCode: 3416
DisorderType: Malformation syndrome
Name: Dysplastic cortical hyperostosis
OrphaCode: 646139
DisorderType: Malformation syndrome
Children: Name: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
OrphaCode: 2204
DisorderType: Clinical subtype
Name: Dysplastic cortical hyperostosis, Al-Gazali type
OrphaCode: 646136
DisorderType: Clinical subtype
Name: Osteopetrosis and related disorders
OrphaCode: 2781
DisorderType: Clinical group
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Isolated osteopoikilosis
OrphaCode: 166119
DisorderType: Disease
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Intermediate osteopetrosis
OrphaCode: 210110
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Dysosteosclerosis
OrphaCode: 1782
DisorderType: Malformation syndrome
Name: Melorheostosis with osteopoikilosis
OrphaCode: 1879
DisorderType: Malformation syndrome
Name: Melorheostosis
OrphaCode: 2485
DisorderType: Malformation syndrome
Name: Osteomesopyknosis
OrphaCode: 2777
DisorderType: Malformation syndrome
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Autosomal dominant osteopetrosis type 1
OrphaCode: 2783
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Infantile osteopetrosis with neuroaxonal dysplasia
OrphaCode: 85179
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Osteosclerotic metaphyseal dysplasia
OrphaCode: 500548
DisorderType: Malformation syndrome
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Craniometadiaphyseal dysplasia, wormian bone type
OrphaCode: 85184
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia, Braun-Tinschert type
OrphaCode: 85188
DisorderType: Malformation syndrome
Name: Neonatal osteosclerotic dysplasia
OrphaCode: 93443
DisorderType: Clinical group
Children: Name: Caffey disease
OrphaCode: 1310
DisorderType: Malformation syndrome
Name: Osteosclerotic bone dysplasia
OrphaCode: 1832
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Primary hypertrophic osteoarthropathy
OrphaCode: 248095
DisorderType: Clinical group
Children: Name: Cranio-osteoarthropathy
OrphaCode: 1525
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: High bone mass osteogenesis imperfecta
OrphaCode: 314029
DisorderType: Disease
Name: Mixed sclerosing bone dystrophy with extra-skeletal manifestations
OrphaCode: 324364
DisorderType: Disease
Name: X-linked calvarial hyperostosis
OrphaCode: 391327
DisorderType: Disease
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Primary bone dysplasia with decreased bone density
OrphaCode: 93446
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta
OrphaCode: 666
DisorderType: Disease
Children: Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 5
OrphaCode: 216828
DisorderType: Clinical subtype
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Osteoporosis-oculocutaneous hypopigmentation syndrome
OrphaCode: 2786
DisorderType: Malformation syndrome
Name: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OrphaCode: 2787
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Complex lethal osteochondrodysplasia
OrphaCode: 457378
DisorderType: Malformation syndrome
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Singleton-Merten dysplasia
OrphaCode: 85191
DisorderType: Malformation syndrome
Name: Calvarial doughnut lesions-bone fragility syndrome
OrphaCode: 85192
DisorderType: Malformation syndrome
Name: Idiopathic juvenile osteoporosis
OrphaCode: 85193
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: X-linked osteoporosis with fractures
OrphaCode: 391330
DisorderType: Disease
Name: LRP5-related primary osteoporosis
OrphaCode: 498481
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Primary bone dysplasia with defective bone mineralization
OrphaCode: 93447
DisorderType: Category
Children: Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Familial calcium pyrophosphate deposition
OrphaCode: 1416
DisorderType: Disease
Name: Primary osteolysis
OrphaCode: 93449
DisorderType: Category
Children: Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Epiphyseal stippling-osteoclastic hyperplasia syndrome
OrphaCode: 1952
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Talo-patello-scaphoid osteolysis
OrphaCode: 50809
DisorderType: Malformation syndrome
Name: Familial expansile osteolysis
OrphaCode: 85195
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Phalangeal microgeodic syndrome
OrphaCode: 352636
DisorderType: Disease
Name: Multicentric osteolysis-nodulosis-arthropathy spectrum
OrphaCode: 371428
DisorderType: Disease
Name: Primary bone dysplasia with disorganized development of skeletal components
OrphaCode: 93450
DisorderType: Category
Children: Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Fibrous dysplasia/McCune-Albright syndrome
OrphaCode: 595216
DisorderType: Clinical group
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Fibrous dysplasia of bone
OrphaCode: 249
DisorderType: Malformation syndrome
Children: Name: Monostotic fibrous dysplasia
OrphaCode: 93277
DisorderType: Clinical subtype
Name: Polyostotic fibrous dysplasia
OrphaCode: 93276
DisorderType: Clinical subtype
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Dysplasia epiphysealis hemimelica
OrphaCode: 1822
DisorderType: Malformation syndrome
Name: Exostoses-anetodermia-brachydactyly type E syndrome
OrphaCode: 1962
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Metachondromatosis
OrphaCode: 2499
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Carpotarsal osteochondromatosis
OrphaCode: 2767
DisorderType: Malformation syndrome
Name: Short stature, Brussels type
OrphaCode: 2867
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Upington disease
OrphaCode: 3408
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Mazabraud syndrome
OrphaCode: 57782
DisorderType: Malformation syndrome
Name: Genochondromatosis type 1
OrphaCode: 85197
DisorderType: Disease
Name: Dysspondyloenchondromatosis
OrphaCode: 85198
DisorderType: Malformation syndrome
Name: Genochondromatosis type 2
OrphaCode: 93398
DisorderType: Disease
Name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
OrphaCode: 99646
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Osteofibrous dysplasia
OrphaCode: 488265
DisorderType: Disease
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia and isolated cranial ossification defect
OrphaCode: 93451
DisorderType: Category
Children: Name: Parietal foramina with clavicular hypoplasia
OrphaCode: 251290
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Lethal chondrodysplasia
OrphaCode: 93465
DisorderType: Category
Children: Name: Bone dysplasia, lethal Holmgren type
OrphaCode: 1842
DisorderType: Malformation syndrome
Name: Lethal Kniest-like dysplasia
OrphaCode: 2347
DisorderType: Malformation syndrome
Name: Pyknoachondrogenesis
OrphaCode: 3003
DisorderType: Malformation syndrome
Name: Lethal recessive chondrodysplasia
OrphaCode: 1423
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
OrphaCode: 364531
DisorderType: Category
Children: Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Dysostosis of genetic origin
OrphaCode: 404568
DisorderType: Category
Children: Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Congenital pseudoarthrosis of the clavicle
OrphaCode: 66630
DisorderType: Disease
Name: Dysostosis with predominant craniofacial involvement
OrphaCode: 93453
DisorderType: Category
Children: Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia
OrphaCode: 250
DisorderType: Clinical group
Children: Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia-Poland anomaly syndrome
OrphaCode: 1521
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Oculoauriculofrontonasal syndrome
OrphaCode: 398156
DisorderType: Malformation syndrome
Name: SIX2-related frontonasal dysplasia
OrphaCode: 488437
DisorderType: Malformation syndrome
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
OrphaCode: 521308
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Familial osteodysplasia, Anderson type
OrphaCode: 2769
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Dobrow syndrome
OrphaCode: 3262
DisorderType: Malformation syndrome
Name: Dysostosis with predominant vertebral and costal involvement
OrphaCode: 93454
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Ankylosing vertebral hyperostosis with tylosis
OrphaCode: 2206
DisorderType: Malformation syndrome
Name: Melhem-Fahl syndrome
OrphaCode: 2482
DisorderType: Malformation syndrome
Name: Imperforate oropharynx-costovertebral anomalies syndrome
OrphaCode: 2759
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Autosomal dominant spondylocostal dysostosis
OrphaCode: 1797
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OrphaCode: 85164
DisorderType: Disease
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Patellar dysostosis
OrphaCode: 93455
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Coxopodopatellar syndrome
OrphaCode: 1509
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Dysostosis of genetic origin with limb anomaly as a major feature
OrphaCode: 404571
DisorderType: Category
Children: Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Dysostosis with limb and face anomalies as a major feature
OrphaCode: 364571
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis
OrphaCode: 364574
DisorderType: Clinical group
Children: Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Acrofrontofacionasal dysostosis
OrphaCode: 1784
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Genetic syndrome with limb reduction defects
OrphaCode: 404574
DisorderType: Category
Children: Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Ectrodactyly with and without other manifestations
OrphaCode: 498477
DisorderType: Category
Children: Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Isolated split hand-split foot malformation
OrphaCode: 2440
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Non-immune hydrops fetalis
OrphaCode: 363999
DisorderType: Clinical subtype
Name: Rare genetic gynecological and obstetrical diseases
OrphaCode: 183731
DisorderType: Category
Children: Name: Hereditary breast and/or ovarian cancer syndrome
OrphaCode: 145
DisorderType: Disease
Name: Ovarian hyperstimulation syndrome
OrphaCode: 64739
DisorderType: Disease
Name: Müllerian aplasia
OrphaCode: 73217
DisorderType: Clinical group
Children: Name: Partial bilateral aplasia of the Müllerian ducts
OrphaCode: 180068
DisorderType: Clinical group
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Unilateral aplasia of the Müllerian ducts
OrphaCode: 180071
DisorderType: Clinical group
Children: Name: True unicornuate uterus
OrphaCode: 180074
DisorderType: Morphological anomaly
Name: Pseudounicornuate uterus
OrphaCode: 180079
DisorderType: Morphological anomaly
Name: Isolated congenital breast hypoplasia/aplasia
OrphaCode: 180188
DisorderType: Morphological anomaly
Name: Anomaly of puberty or/and menstrual cycle of genetic origin
OrphaCode: 202940
DisorderType: Category
Children: Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Rare genetic premature ovarian failure
OrphaCode: 485382
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Symptomatic form of fragile X syndrome in female carriers
OrphaCode: 449291
DisorderType: Disease
Name: Fragile X-associated primary ovarian insufficiency
OrphaCode: 642691
DisorderType: Disease
Name: Hyperandrogenism due to cortisone reductase deficiency
OrphaCode: 168588
DisorderType: Malformation syndrome
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Genetic precocious puberty in female
OrphaCode: 435564
DisorderType: Category
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Aromatase excess syndrome
OrphaCode: 178345
DisorderType: Disease
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Genetic difference of sex development of gynecological interest
OrphaCode: 325665
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Gonadal dysgenesis of gynecological interest
OrphaCode: 98074
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: 46,XY difference of sex development of gynecological interest
OrphaCode: 325632
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: Syndrome with difference of sex development of gynecological interest
OrphaCode: 325638
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Rare genetic immune disease
OrphaCode: 183770
DisorderType: Category
Children: Name: Primary immunodeficiency
OrphaCode: 101997
DisorderType: Category
Children: Name: Primary immunodeficiency due to a defect in innate immunity
OrphaCode: 101988
DisorderType: Category
Children: Name: Quantitative and/or qualitative congenital phagocyte defect
OrphaCode: 101985
DisorderType: Category
Children: Name: Congenital neutropenia
OrphaCode: 101987
DisorderType: Category
Children: Name: Cyclic neutropenia
OrphaCode: 2686
DisorderType: Disease
Name: Severe congenital neutropenia
OrphaCode: 42738
DisorderType: Clinical group
Children: Name: Autosomal dominant severe congenital neutropenia
OrphaCode: 486
DisorderType: Disease
Name: X-linked severe congenital neutropenia
OrphaCode: 86788
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia
OrphaCode: 439849
DisorderType: Category
Children: Name: Kostmann syndrome
OrphaCode: 99749
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
OrphaCode: 420699
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
OrphaCode: 420702
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Syndrome with congenital neutropenia as a major feature
OrphaCode: 331184
DisorderType: Category
Children: Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
OrphaCode: 675767
DisorderType: Disease
Name: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
OrphaCode: 675628
DisorderType: Disease
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Lichtenstein syndrome
OrphaCode: 2390
DisorderType: Disease
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
OrphaCode: 90023
DisorderType: Disease
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Poikiloderma with neutropenia
OrphaCode: 221046
DisorderType: Disease
Name: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OrphaCode: 369852
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Recurrent infections due to specific granule deficiency
OrphaCode: 169142
DisorderType: Disease
Name: Congenital functional phagocyte defect
OrphaCode: 183681
DisorderType: Category
Children: Name: Non-syndromic congenital phagocyte functional defect
OrphaCode: 674896
DisorderType: Category
Children: Name: GATA2 deficiency spectrum
OrphaCode: 228423
DisorderType: Disease
Name: Hereditary pulmonary alveolar proteinosis
OrphaCode: 264675
DisorderType: Disease
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Infantile LAD-like disease due to RAC2 deficiency
OrphaCode: 183707
DisorderType: Disease
Name: Myeloperoxidase deficiency
OrphaCode: 2587
DisorderType: Disease
Name: Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
OrphaCode: 619941
DisorderType: Disease
Name: Syndrome with congenital phagocyte functional defect as a major feature
OrphaCode: 674648
DisorderType: Category
Children: Name: Leukocyte adhesion deficiency
OrphaCode: 2968
DisorderType: Disease
Children: Name: Leukocyte adhesion deficiency type I
OrphaCode: 99842
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Susceptibility to localized juvenile periodontitis
OrphaCode: 447740
DisorderType: Disease
Name: Actinomyopathy-associated syndromic thrombocytopenia
OrphaCode: 674653
DisorderType: Disease
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Immunodeficiency due to a complement cascade protein anomaly
OrphaCode: 101992
DisorderType: Category
Children: Name: Immunodeficiency due to a complement cascade component deficiency
OrphaCode: 459345
DisorderType: Category
Children: Name: Immunodeficiency due to MASP-2 deficiency
OrphaCode: 331187
DisorderType: Disease
Name: Immunodeficiency due to ficolin3 deficiency
OrphaCode: 331190
DisorderType: Disease
Name: Immunodeficiency due to a classical component pathway complement deficiency
OrphaCode: 169147
DisorderType: Disease
Name: Complement component 3 deficiency
OrphaCode: 280133
DisorderType: Disease
Name: Immunodeficiency due to a late component of complement deficiency
OrphaCode: 169150
DisorderType: Disease
Name: Immunodeficiency due to a complement regulatory deficiency
OrphaCode: 459348
DisorderType: Category
Children: Name: Properdin deficiency
OrphaCode: 2966
DisorderType: Disease
Name: Recurrent Neisseria infections due to factor D deficiency
OrphaCode: 169467
DisorderType: Disease
Name: Immunodeficiency with factor I anomaly
OrphaCode: 200418
DisorderType: Disease
Name: Immunodeficiency with factor H anomaly
OrphaCode: 200421
DisorderType: Disease
Name: Primary CD59 deficiency
OrphaCode: 169464
DisorderType: Disease
Name: Genetic susceptibility to infections due to particular pathogens
OrphaCode: 183710
DisorderType: Category
Children: Name: WHIM syndrome
OrphaCode: 51636
DisorderType: Disease
Name: Inherited epidermodysplasia verruciformis
OrphaCode: 302
DisorderType: Disease
Name: T-cell immunodeficiency with epidermodysplasia verruciformis
OrphaCode: 324294
DisorderType: Disease
Name: Chronic mucocutaneous candidiasis
OrphaCode: 1334
DisorderType: Disease
Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases
OrphaCode: 748
DisorderType: Clinical group
Children: Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
OrphaCode: 319535
DisorderType: Category
Children: Name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
OrphaCode: 99898
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
OrphaCode: 319547
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
OrphaCode: 319552
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
OrphaCode: 319558
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OrphaCode: 319563
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
OrphaCode: 477857
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
OrphaCode: 319539
DisorderType: Category
Children: Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
OrphaCode: 319569
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
OrphaCode: 319574
DisorderType: Disease
Name: Susceptibility to infection due to TYK2 deficiency
OrphaCode: 331226
DisorderType: Disease
Name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
OrphaCode: 574957
DisorderType: Disease
Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
OrphaCode: 319543
DisorderType: Category
Children: Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
OrphaCode: 319581
DisorderType: Disease
Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
OrphaCode: 319589
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
OrphaCode: 319595
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
OrphaCode: 319600
DisorderType: Disease
Name: X-linked mendelian susceptibility to mycobacterial diseases
OrphaCode: 319605
DisorderType: Disease
Children: Name: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
OrphaCode: 319612
DisorderType: Etiological subtype
Name: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
OrphaCode: 319623
DisorderType: Etiological subtype
Name: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
OrphaCode: 70592
DisorderType: Disease
Name: Bacterial susceptibility due to TLR signaling pathway deficiency
OrphaCode: 183713
DisorderType: Disease
Name: Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
OrphaCode: 391311
DisorderType: Disease
Name: Whipple disease
OrphaCode: 3452
DisorderType: Disease
Name: Predisposition to invasive fungal disease due to CARD9 deficiency
OrphaCode: 457088
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Autoinflammatory syndrome with immune deficiency
OrphaCode: 290839
DisorderType: Category
Children: Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Tumor necrosis factor receptor 1 associated periodic syndrome
OrphaCode: 32960
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: NLRP3-associated autoinflammatory disease
OrphaCode: 208650
DisorderType: Clinical group
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Familial cold urticaria
OrphaCode: 47045
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: PLCG2-associated antibody deficiency and immune dysregulation
OrphaCode: 300359
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: DITRA
OrphaCode: 404546
DisorderType: Disease
Name: Periodic fever-immunodeficiency-thrombocytopenia syndrome
OrphaCode: 652522
DisorderType: Disease
Name: Familial hyperinflammatory lymphoproliferative immunodeficiency
OrphaCode: 619953
DisorderType: Disease
Name: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
OrphaCode: 572428
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
OrphaCode: 566067
DisorderType: Disease
Name: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
OrphaCode: 674762
DisorderType: Disease
Name: Other immunodeficiency syndromes due to defects in innate immunity
OrphaCode: 331193
DisorderType: Category
Children: Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Familial isolated congenital asplenia
OrphaCode: 101351
DisorderType: Morphological anomaly
Name: Primary immunodeficiency with predisposition to severe viral infection
OrphaCode: 431156
DisorderType: Category
Children: Name: Predisposition to severe viral infection due to IRF7 deficiency
OrphaCode: 574918
DisorderType: Disease
Name: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
OrphaCode: 431166
DisorderType: Disease
Name: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
OrphaCode: 437552
DisorderType: Disease
Name: Primary immunodeficiency due to a defect in adaptive immunity
OrphaCode: 179006
DisorderType: Category
Children: Name: Combined T and B cell immunodeficiency
OrphaCode: 101972
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency
OrphaCode: 183660
DisorderType: Clinical group
Children: Name: T-B+ severe combined immunodeficiency
OrphaCode: 317416
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to LAT deficiency
OrphaCode: 504523
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
OrphaCode: 276
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
OrphaCode: 35078
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
OrphaCode: 169154
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD45 deficiency
OrphaCode: 169157
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
OrphaCode: 169160
DisorderType: Disease
Name: Severe combined immunodeficiency due to CORO1A deficiency
OrphaCode: 228003
DisorderType: Disease
Name: Severe combined immunodeficiency due to FOXN1 deficiency
OrphaCode: 169095
DisorderType: Disease
Name: T-B- severe combined immunodeficiency
OrphaCode: 317419
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to DCLRE1C deficiency
OrphaCode: 275
DisorderType: Disease
Name: Short-limb skeletal dysplasia with severe combined immunodeficiency
OrphaCode: 935
DisorderType: Disease
Name: Severe combined immunodeficiency due to adenosine deaminase deficiency
OrphaCode: 277
DisorderType: Disease
Name: Reticular dysgenesis
OrphaCode: 33355
DisorderType: Disease
Name: Severe combined immunodeficiency due to LCK deficiency
OrphaCode: 280142
DisorderType: Disease
Name: Severe combined immunodeficiency due to DNA-PKcs deficiency
OrphaCode: 317425
DisorderType: Disease
Name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
OrphaCode: 331206
DisorderType: Disease
Name: T+ B+ severe combined immunodeficiency
OrphaCode: 397802
DisorderType: Clinical group
Children: Name: Combined immunodeficiency due to CARD11 deficiency
OrphaCode: 357237
DisorderType: Disease
Name: Severe combined immunodeficiency due to IKK2 deficiency
OrphaCode: 397787
DisorderType: Disease
Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: Non-severe combined immunodeficiency
OrphaCode: 480549
DisorderType: Category
Children: Name: T-cell immunodeficiency with epidermodysplasia verruciformis
OrphaCode: 324294
DisorderType: Disease
Name: NIK deficiency
OrphaCode: 447731
DisorderType: Disease
Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class II
OrphaCode: 572
DisorderType: Disease
Name: Combined immunodeficiency due to ZAP70 deficiency
OrphaCode: 911
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class I
OrphaCode: 34592
DisorderType: Disease
Name: Omenn syndrome
OrphaCode: 39041
DisorderType: Disease
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Combined immunodeficiency with granulomatosis
OrphaCode: 157949
DisorderType: Disease
Name: Cernunnos-XLF deficiency
OrphaCode: 169079
DisorderType: Disease
Name: Combined immunodeficiency due to CD3gamma deficiency
OrphaCode: 169082
DisorderType: Disease
Name: Susceptibility to respiratory infections associated with CD8alpha chain mutation
OrphaCode: 169085
DisorderType: Disease
Name: Hyper-IgM syndrome with susceptibility to opportunistic infections
OrphaCode: 183663
DisorderType: Disease
Children: Name: X-linked hyper-IgM syndrome
OrphaCode: 101088
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 3
OrphaCode: 101090
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to DOCK8 deficiency
OrphaCode: 217390
DisorderType: Disease
Name: Idiopathic CD4 lymphocytopenia
OrphaCode: 228000
DisorderType: Biological anomaly
Name: Combined immunodeficiency due to partial RAG1 deficiency
OrphaCode: 231154
DisorderType: Disease
Name: Combined immunodeficiency due to STK4 deficiency
OrphaCode: 314689
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: Combined immunodeficiency due to IL21R deficiency
OrphaCode: 357329
DisorderType: Disease
Name: TCR-alpha-beta-positive T-cell deficiency
OrphaCode: 397959
DisorderType: Disease
Name: BENTA disease
OrphaCode: 464336
DisorderType: Disease
Name: Combined immunodeficiency due to TFRC deficiency
OrphaCode: 476113
DisorderType: Disease
Name: IL21-related infantile inflammatory bowel disease
OrphaCode: 477661
DisorderType: Disease
Name: Combined immunodeficiency due to DOCK2 deficiency
OrphaCode: 447737
DisorderType: Disease
Name: Combined immunodeficiency due to MALT1 deficiency
OrphaCode: 397964
DisorderType: Disease
Name: Combined immunodeficiency due to OX40 deficiency
OrphaCode: 431149
DisorderType: Disease
Name: X-linked combined immunodeficiency due to SASH3 deficiency
OrphaCode: 653751
DisorderType: Disease
Name: Combined immunodeficiency due to FOXN1 haploinsufficiency
OrphaCode: 676039
DisorderType: Disease
Name: Combined immunodeficiency due to FCHO1 deficiency
OrphaCode: 647804
DisorderType: Disease
Name: Combined immunodeficiency due to Moesin deficiency
OrphaCode: 504530
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Combined immunodeficiency due to RELA haploinsufficiency
OrphaCode: 596759
DisorderType: Disease
Name: Immunodeficiency predominantly affecting antibody production
OrphaCode: 101977
DisorderType: Category
Children: Name: Common variable immunodeficiency
OrphaCode: 1572
DisorderType: Disease
Name: Transient hypogammaglobulinemia of infancy
OrphaCode: 169139
DisorderType: Disease
Name: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
OrphaCode: 169443
DisorderType: Category
Children: Name: Immunodeficiency due to selective anti-polysaccharide antibody deficiency
OrphaCode: 70593
DisorderType: Disease
Name: Agammaglobulinemia
OrphaCode: 183669
DisorderType: Category
Children: Name: Isolated agammaglobulinemia
OrphaCode: 229717
DisorderType: Disease
Children: Name: X-linked agammaglobulinemia
OrphaCode: 47
DisorderType: Clinical subtype
Name: Autosomal agammaglobulinemia
OrphaCode: 33110
DisorderType: Clinical subtype
Name: Syndromic agammaglobulinemia
OrphaCode: 229720
DisorderType: Category
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Activated PI3K-delta syndrome
OrphaCode: 397596
DisorderType: Disease
Name: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
OrphaCode: 331232
DisorderType: Category
Children: Name: X-linked immunoneurologic disorder
OrphaCode: 2571
DisorderType: Disease
Name: Immunoglobulin heavy chain deficiency
OrphaCode: 169110
DisorderType: Disease
Name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
OrphaCode: 183675
DisorderType: Disease
Name: Selective IgM deficiency
OrphaCode: 331235
DisorderType: Disease
Name: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OrphaCode: 331240
DisorderType: Category
Children: Name: Hyper-IgM syndrome without susceptibility to opportunistic infections
OrphaCode: 183666
DisorderType: Disease
Children: Name: Hyper-IgM syndrome type 2
OrphaCode: 101089
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 4
OrphaCode: 101091
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 5
OrphaCode: 101092
DisorderType: Clinical subtype
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Other immunodeficiency syndrome with predominantly antibody defects
OrphaCode: 331244
DisorderType: Category
Children: Name: Alopecia antibody deficiency
OrphaCode: 1006
DisorderType: Disease
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
OrphaCode: 369861
DisorderType: Disease
Name: Immune dysregulation disease with immunodeficiency
OrphaCode: 169361
DisorderType: Category
Children: Name: Primary hemophagocytic lymphohistiocytosis
OrphaCode: 158038
DisorderType: Clinical group
Children: Name: Primary hemophagocytic lymphohistiocytosis with hypopigmentation
OrphaCode: 331249
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Primary hemophagocytic lymphohistiocytosis without hypopigmentation
OrphaCode: 664482
DisorderType: Category
Children: Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Lysinuric protein intolerance
OrphaCode: 470
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Immunodeficiency syndrome with autoimmunity
OrphaCode: 169355
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Immunodeficiency due to CD25 deficiency
OrphaCode: 169100
DisorderType: Disease
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
OrphaCode: 275517
DisorderType: Disease
Name: FADD-related immunodeficiency
OrphaCode: 306550
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
OrphaCode: 444463
DisorderType: Disease
Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: Dianzani autoimmune lymphoproliferative disease
OrphaCode: 275523
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Immune dysregulation with inflammatory bowel disease
OrphaCode: 529974
DisorderType: Clinical group
Children: Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OrphaCode: 238569
DisorderType: Disease
Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
OrphaCode: 529977
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
OrphaCode: 529980
DisorderType: Disease
Name: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
OrphaCode: 676125
DisorderType: Disease
Name: Early-onset immune dysregulation due to DOCK11 complete deficiency
OrphaCode: 658951
DisorderType: Disease
Name: Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
OrphaCode: 664456
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to PRKCD deficiency
OrphaCode: 664711
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
OrphaCode: 664699
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to CD137 deficiency
OrphaCode: 664726
DisorderType: Disease
Name: EBV-induced lymphoproliferative disease due to TET2 deficiency
OrphaCode: 664729
DisorderType: Disease
Name: EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
OrphaCode: 664734
DisorderType: Clinical group
Children: Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: X-linked lymphoproliferative disease
OrphaCode: 2442
DisorderType: Clinical group
Children: Name: X-linked lymphoproliferative disease due to SAP deficiency
OrphaCode: 538931
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to XIAP deficiency
OrphaCode: 538934
DisorderType: Disease
Name: Syndrome with combined immunodeficiency
OrphaCode: 331217
DisorderType: Category
Children: Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Transcobalamin deficiency
OrphaCode: 859
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Absent thumb-short stature-immunodeficiency syndrome
OrphaCode: 2951
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Hepatic veno-occlusive disease-immunodeficiency syndrome
OrphaCode: 79124
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Combined immunodeficiency due to CRAC channel dysfunction
OrphaCode: 169090
DisorderType: Disease
Children: Name: Combined immunodeficiency due to ORAI1 deficiency
OrphaCode: 317428
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to STIM1 deficiency
OrphaCode: 317430
DisorderType: Clinical subtype
Name: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
OrphaCode: 169346
DisorderType: Category
Children: Name: Combined immunodeficiency due to GINS1 deficiency
OrphaCode: 505227
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: ICF syndrome
OrphaCode: 2268
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
OrphaCode: 75391
DisorderType: Disease
Name: Immuno-osseous dysplasia
OrphaCode: 169349
DisorderType: Clinical group
Children: Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Pancytopenia due to IKZF1 mutations
OrphaCode: 317473
DisorderType: Disease
Name: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
OrphaCode: 329173
DisorderType: Disease
Name: Syndome with combined immunodeficiency due to thymic defect
OrphaCode: 331220
DisorderType: Category
Children: Name: Severe combined immunodeficiency due to FOXN1 deficiency
OrphaCode: 169095
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: T-cell immunodeficiency with thymic aplasia
OrphaCode: 83471
DisorderType: Disease
Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Hyper-IgE syndrome
OrphaCode: 331223
DisorderType: Clinical group
Children: Name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
OrphaCode: 2314
DisorderType: Disease
Name: Netherton syndrome
OrphaCode: 634
DisorderType: Disease
Name: PGM3-CDG
OrphaCode: 443811
DisorderType: Disease
Name: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
OrphaCode: 641368
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to ERBIN deficiency
OrphaCode: 656912
DisorderType: Disease
Name: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656313
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
OrphaCode: 656300
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Autosomal recessive combined immunodeficiency due to IL6R deficiency
OrphaCode: 656326
DisorderType: Disease
Name: CADINS disease
OrphaCode: 619972
DisorderType: Disease
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
OrphaCode: 661412
DisorderType: Disease
Name: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
OrphaCode: 619979
DisorderType: Disease
Name: Hereditary neutrophilia
OrphaCode: 279943
DisorderType: Disease
Name: Rare genetic vascular disease
OrphaCode: 233655
DisorderType: Category
Children: Name: Familial abdominal aortic aneurysm
OrphaCode: 86
DisorderType: Disease
Name: Sneddon syndrome
OrphaCode: 820
DisorderType: Disease
Name: Generalized arterial calcification of infancy
OrphaCode: 51608
DisorderType: Disease
Name: Rare disease with thoracic aortic aneurysm and aortic dissection
OrphaCode: 285014
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Familial aortic dissection
OrphaCode: 229
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Familial thoracic aortic aneurysm and aortic dissection
OrphaCode: 91387
DisorderType: Disease
Name: Neonatal Marfan syndrome
OrphaCode: 284979
DisorderType: Disease
Name: Aneurysm-osteoarthritis syndrome
OrphaCode: 284984
DisorderType: Disease
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Hereditary arterial and articular multiple calcification syndrome
OrphaCode: 289601
DisorderType: Disease
Name: Adenosine deaminase 2 deficiency
OrphaCode: 404553
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Rare genetic systemic or rheumatologic disease
OrphaCode: 271870
DisorderType: Category
Children: Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
OrphaCode: 529977
DisorderType: Disease
Name: Familial calcium pyrophosphate deposition
OrphaCode: 1416
DisorderType: Disease
Name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
OrphaCode: 2848
DisorderType: Disease
Name: Hypoplasminogenemia
OrphaCode: 722
DisorderType: Disease
Name: Sea-blue histiocytosis
OrphaCode: 158029
DisorderType: Disease
Name: LAMA5-related multisystemic syndrome
OrphaCode: 521450
DisorderType: Disease
Name: Progeroid and marfanoid aspect-lipodystrophy syndrome
OrphaCode: 300382
DisorderType: Disease
Name: Intermittent hydrarthrosis
OrphaCode: 329967
DisorderType: Disease
Name: Hereditary amyloidosis
OrphaCode: 444116
DisorderType: Category
Children: Name: AGel amyloidosis
OrphaCode: 85448
DisorderType: Disease
Name: Hereditary amyloidosis with primary renal involvement
OrphaCode: 85450
DisorderType: Disease
Children: Name: AApoAI amyloidosis
OrphaCode: 93560
DisorderType: Clinical subtype
Name: ALys amyloidosis
OrphaCode: 93561
DisorderType: Clinical subtype
Name: AFib amyloidosis
OrphaCode: 93562
DisorderType: Clinical subtype
Name: AApoAII amyloidosis
OrphaCode: 238269
DisorderType: Clinical subtype
Name: Cerebral Amyloid Angiopathy
OrphaCode: 85458
DisorderType: Disease
Children: Name: ABeta amyloidosis, Dutch type
OrphaCode: 100006
DisorderType: Clinical subtype
Name: ACys amyloidosis
OrphaCode: 100008
DisorderType: Clinical subtype
Name: ABetaL34V amyloidosis
OrphaCode: 324703
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Iowa type
OrphaCode: 324708
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Italian type
OrphaCode: 324713
DisorderType: Clinical subtype
Name: ABetaA21G amyloidosis
OrphaCode: 324718
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Arctic type
OrphaCode: 324723
DisorderType: Clinical subtype
Name: Hereditary ATTR amyloidosis
OrphaCode: 271861
DisorderType: Disease
Children: Name: ATTRV30M amyloidosis
OrphaCode: 85447
DisorderType: Clinical subtype
Name: ATTRV122I amyloidosis
OrphaCode: 85451
DisorderType: Clinical subtype
Name: Variant ABeta2M amyloidosis
OrphaCode: 314652
DisorderType: Disease
Name: ITM2B amyloidosis
OrphaCode: 439254
DisorderType: Disease
Children: Name: ABri amyloidosis
OrphaCode: 97345
DisorderType: Clinical subtype
Name: ADan amyloidosis
OrphaCode: 97346
DisorderType: Clinical subtype
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Early-onset immune dysregulation due to DOCK11 complete deficiency
OrphaCode: 658951
DisorderType: Disease
Name: Rare hereditary connective tissue disease
OrphaCode: 619249
DisorderType: Category
Children: Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OrphaCode: 238569
DisorderType: Disease
Name: Marfan syndrome and Marfan-related disorders
OrphaCode: 284993
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Isolated ectopia lentis
OrphaCode: 1885
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Familial thoracic aortic aneurysm and aortic dissection
OrphaCode: 91387
DisorderType: Disease
Name: Neonatal Marfan syndrome
OrphaCode: 284979
DisorderType: Disease
Name: Aneurysm-osteoarthritis syndrome
OrphaCode: 284984
DisorderType: Disease
Name: Cutis laxa-Marfanoid syndrome
OrphaCode: 171719
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Malignant atrophic papulosis
OrphaCode: 679
DisorderType: Clinical subtype
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Rare hereditary autoinflammatory disease
OrphaCode: 619238
DisorderType: Category
Children: Name: Hereditary periodic fever syndrome
OrphaCode: 324924
DisorderType: Category
Children: Name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
OrphaCode: 566067
DisorderType: Disease
Name: Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OrphaCode: 500062
DisorderType: Disease
Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Tumor necrosis factor receptor 1 associated periodic syndrome
OrphaCode: 32960
DisorderType: Disease
Name: NLRP3-associated autoinflammatory disease
OrphaCode: 208650
DisorderType: Clinical group
Children: Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Familial cold urticaria
OrphaCode: 47045
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: NLRP12-associated hereditary periodic fever syndrome
OrphaCode: 247868
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Periodic fever-infantile enterocolitis-autoinflammatory syndrome
OrphaCode: 436166
DisorderType: Disease
Name: NLRC4-related familial cold autoinflammatory syndrome
OrphaCode: 576349
DisorderType: Disease
Name: Periodic fever-immunodeficiency-thrombocytopenia syndrome
OrphaCode: 652522
DisorderType: Disease
Name: F12-associated cold autoinflammatory syndrome
OrphaCode: 617919
DisorderType: Disease
Name: DITRA
OrphaCode: 404546
DisorderType: Disease
Name: Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
OrphaCode: 652510
DisorderType: Clinical group
Children: Name: PAPASH syndrome
OrphaCode: 641380
DisorderType: Disease
Name: PAPA syndrome
OrphaCode: 69126
DisorderType: Disease
Name: PASH syndrome
OrphaCode: 289478
DisorderType: Disease
Name: Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
OrphaCode: 674762
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Hyperzincemia and hypercalprotectinemia
OrphaCode: 251523
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Type 1 interferonopathy
OrphaCode: 477647
DisorderType: Category
Children: Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Spondyloenchondrodysplasia
OrphaCode: 1855
DisorderType: Malformation syndrome
Name: Syndromic diarrhea
OrphaCode: 84064
DisorderType: Disease
Name: Singleton-Merten dysplasia
OrphaCode: 85191
DisorderType: Malformation syndrome
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
OrphaCode: 247691
DisorderType: Disease
Name: Autosomal systemic lupus erythematosus
OrphaCode: 300345
DisorderType: Disease
Name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OrphaCode: 319563
DisorderType: Disease
Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: Adenosine deaminase 2 deficiency
OrphaCode: 404553
DisorderType: Disease
Name: STING-associated vasculopathy with onset in infancy
OrphaCode: 425120
DisorderType: Disease
Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: USP18 deficiency
OrphaCode: 481665
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: Mixed autoinflammatory and autoimmune syndrome
OrphaCode: 324933
DisorderType: Category
Children: Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
OrphaCode: 324530
DisorderType: Disease
Name: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
OrphaCode: 329173
DisorderType: Disease
Name: PLCG2-associated antibody deficiency and immune dysregulation
OrphaCode: 300359
DisorderType: Disease
Name: Sweet syndrome
OrphaCode: 3243
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Genetic infertility
OrphaCode: 275742
DisorderType: Category
Children: Name: Rare genetic male infertility
OrphaCode: 399980
DisorderType: Category
Children: Name: Male infertility due to gonadal dysgenesis or sperm disorder
OrphaCode: 399764
DisorderType: Category
Children: Name: Male infertility due to gonadal dysgenesis
OrphaCode: 98313
DisorderType: Category
Children: Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: Male infertility due to sperm disorder
OrphaCode: 399771
DisorderType: Category
Children: Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Male infertility with spermatogenesis disorder
OrphaCode: 399775
DisorderType: Category
Children: Name: Chromosome Y microdeletion
OrphaCode: 1646
DisorderType: Malformation syndrome
Name: Male infertility with spermatogenesis disorder due to single gene mutation
OrphaCode: 399786
DisorderType: Category
Children: Name: Male infertility with azoospermia or oligozoospermia due to single gene mutation
OrphaCode: 399805
DisorderType: Disease
Name: Male infertility with teratozoospermia due to single gene mutation
OrphaCode: 399808
DisorderType: Disease
Children: Name: Male infertility due to acephalic spermatozoa
OrphaCode: 529970
DisorderType: Clinical subtype
Name: Male infertility due to large-headed multiflagellar polyploid spermatozoa
OrphaCode: 137893
DisorderType: Clinical subtype
Name: Male infertility due to globozoospermia
OrphaCode: 171709
DisorderType: Clinical subtype
Name: Male infertility due to sperm motility disorder
OrphaCode: 399813
DisorderType: Category
Children: Name: Primary ciliary dyskinesia
OrphaCode: 244
DisorderType: Disease
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: Non-syndromic male infertility due to sperm motility disorder
OrphaCode: 276234
DisorderType: Disease
Name: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
OrphaCode: 399983
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Rare male infertility due to testicular endocrine disorder
OrphaCode: 399685
DisorderType: Category
Children: Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: Rare disorder with hypergonadotropic hypogonadism
OrphaCode: 181441
DisorderType: Category
Children: Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Primary hypergonadotropic hypogonadism-partial alopecia syndrome
OrphaCode: 2232
DisorderType: Disease
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Mikati-Najjar-Sahli syndrome
OrphaCode: 2558
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Rare male infertility due to adrenal disorder of genetic origin
OrphaCode: 399994
DisorderType: Category
Children: Name: Cushing syndrome due to bilateral macronodular adrenocortical disease
OrphaCode: 189427
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Male infertility due to obstructive azoospermia of genetic origin
OrphaCode: 399998
DisorderType: Category
Children: Name: Congenital bilateral absence of vas deferens
OrphaCode: 48
DisorderType: Morphological anomaly
Name: Rare genetic disorder with obstructive azoospermia
OrphaCode: 400003
DisorderType: Category
Children: Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Persistent Müllerian duct syndrome
OrphaCode: 2856
DisorderType: Malformation syndrome
Name: Young syndrome
OrphaCode: 3471
DisorderType: Disease
Name: Rare genetic female infertility
OrphaCode: 400008
DisorderType: Category
Children: Name: Rare female infertility due to gonadal dysgenesis
OrphaCode: 399877
DisorderType: Category
Children: Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
OrphaCode: 400011
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Rare female infertility due to a congenital hypogonadotropic hypogonadism
OrphaCode: 399839
DisorderType: Category
Children: Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
OrphaCode: 399846
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Rare female infertility due to adrenal disorder of genetic origin
OrphaCode: 400018
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Rare female infertility due to an anomaly of ovarian function of genetic origin
OrphaCode: 400022
DisorderType: Category
Children: Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Insulin-resistance syndrome type A
OrphaCode: 2297
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: Female infertility due to an implantation defect of genetic origin
OrphaCode: 400025
DisorderType: Category
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Rare female infertility due to oocyte maturation defect
OrphaCode: 404469
DisorderType: Category
Children: Name: Female infertility due to oocyte meiotic arrest
OrphaCode: 488191
DisorderType: Disease
Name: Female infertility due to zona pellucida defect
OrphaCode: 404466
DisorderType: Disease
Name: Laminopathy
OrphaCode: 98301
DisorderType: Category
Children: Name: Laminopathy with striated muscle involvement
OrphaCode: 300755
DisorderType: Category
Children: Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Left ventricular noncompaction
OrphaCode: 54260
DisorderType: Disease
Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: Congenital muscular dystrophy due to LMNA mutation
OrphaCode: 157973
DisorderType: Disease
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Inherited isolated arrhythmogenic cardiomyopathy
OrphaCode: 217656
DisorderType: Disease
Children: Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
OrphaCode: 293888
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
OrphaCode: 293899
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
OrphaCode: 293910
DisorderType: Clinical subtype
Name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OrphaCode: 300751
DisorderType: Disease
Name: Laminopathy with peripheral neuropathy
OrphaCode: 300758
DisorderType: Category
Children: Name: Charcot-Marie-Tooth disease type 2B1
OrphaCode: 98856
DisorderType: Disease
Name: Laminopathy with lipodystrophy
OrphaCode: 300763
DisorderType: Category
Children: Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: Familial partial lipodystrophy, Köbberling type
OrphaCode: 79084
DisorderType: Disease
Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: Laminopathy with premature aging
OrphaCode: 300766
DisorderType: Category
Children: Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Atypical Werner syndrome
OrphaCode: 79474
DisorderType: Disease
Name: LMNA-related cardiocutaneous progeria syndrome
OrphaCode: 363618
DisorderType: Disease
Name: Ciliopathy
OrphaCode: 363250
DisorderType: Category
Children: Name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OrphaCode: 314394
DisorderType: Disease
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Complex lethal osteochondrodysplasia
OrphaCode: 457378
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Renal ciliopathy
OrphaCode: 156162
DisorderType: Category
Children: Name: Adult familial nephronophthisis-spastic quadriparesia syndrome
OrphaCode: 2666
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Oncogenic osteomalacia
OrphaCode: 352540
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Nephronophthisis
OrphaCode: 655
DisorderType: Disease
Children: Name: Late-onset nephronophthisis
OrphaCode: 93589
DisorderType: Clinical subtype
Name: Infantile nephronophthisis
OrphaCode: 93591
DisorderType: Clinical subtype
Name: Juvenile nephronophthisis
OrphaCode: 93592
DisorderType: Clinical subtype
Name: Senior-Boichis syndrome
OrphaCode: 84081
DisorderType: Disease
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: McKusick-Kaufman syndrome
OrphaCode: 2473
DisorderType: Malformation syndrome
Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: MUC1-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88949
DisorderType: Clinical subtype
Name: UMOD-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88950
DisorderType: Clinical subtype
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Retinal ciliopathy
OrphaCode: 156165
DisorderType: Category
Children: Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
OrphaCode: 156168
DisorderType: Category
Children: Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Retinal ciliopathy due to mutation in the RPGR gene
OrphaCode: 156171
DisorderType: Category
Children: Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Primary ciliary dyskinesia
OrphaCode: 244
DisorderType: Disease
Name: Progressive cone dystrophy
OrphaCode: 1871
DisorderType: Disease
Name: Cone rod dystrophy
OrphaCode: 1872
DisorderType: Disease
Name: Retinal ciliopathy due to mutation in the RPGRIP gene
OrphaCode: 156174
DisorderType: Category
Children: Name: Cone rod dystrophy
OrphaCode: 1872
DisorderType: Disease
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Retinal ciliopathy due to mutation in Usher gene
OrphaCode: 156177
DisorderType: Category
Children: Name: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Retinal ciliopathy due to mutation in nephronophthisis gene
OrphaCode: 156180
DisorderType: Category
Children: Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Nephronophthisis
OrphaCode: 655
DisorderType: Disease
Children: Name: Late-onset nephronophthisis
OrphaCode: 93589
DisorderType: Clinical subtype
Name: Infantile nephronophthisis
OrphaCode: 93591
DisorderType: Clinical subtype
Name: Juvenile nephronophthisis
OrphaCode: 93592
DisorderType: Clinical subtype
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Retinal ciliopathy due to mutation in Bardet-Biedl gene
OrphaCode: 156183
DisorderType: Category
Children: Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: McKusick-Kaufman syndrome
OrphaCode: 2473
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Serpinopathy
OrphaCode: 250805
DisorderType: Category
Children: Name: Serpinopathy with toxic serpin polymerization
OrphaCode: 250808
DisorderType: Category
Children: Name: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
OrphaCode: 178396
DisorderType: Disease
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: Congenital plasminogen activator inhibitor type 1 deficiency
OrphaCode: 465
DisorderType: Disease
Name: Serpinopathy with loss of serpin function
OrphaCode: 250811
DisorderType: Category
Children: Name: Hereditary thrombophilia due to congenital antithrombin deficiency
OrphaCode: 82
DisorderType: Disease
Name: Hereditary angioedema with C1Inh deficiency
OrphaCode: 528623
DisorderType: Disease
Children: Name: Hereditary angioedema type 1
OrphaCode: 100050
DisorderType: Etiological subtype
Name: Hereditary angioedema type 2
OrphaCode: 100051
DisorderType: Etiological subtype
Name: Congenital alpha2-antiplasmin deficiency
OrphaCode: 79
DisorderType: Disease
Name: Corticosteroid-binding globulin deficiency
OrphaCode: 199247
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Palmoplantar keratoderma, Nagashima type
OrphaCode: 140966
DisorderType: Disease