Orphanet classification: Rare inborn errors of metabolism (ORPHA:68367)
Disorder type: Category
Subcategories and diseases:
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: 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: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
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 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: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
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: 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: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
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 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: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
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: Idiopathic malabsorption due to bile acid synthesis defects
OrphaCode: 84065
DisorderType: Disease
Name: Bile acid synthesis defect with cholestasis and malabsorption
OrphaCode: 163631
DisorderType: Category
Children: 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: Cerebrotendinous xanthomatosis
OrphaCode: 909
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: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
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: Bilirubin encephalopathy
OrphaCode: 415286
DisorderType: Clinical group
Children: Name: Acute bilirubin encephalopathy
OrphaCode: 529799
DisorderType: Clinical syndrome
Name: Chronic bilirubin encephalopathy
OrphaCode: 529808
DisorderType: Clinical syndrome
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: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
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: 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