Orphanet classification: Rare bone disease (ORPHA:93419)
Disorder type: Category
Subcategories and diseases:
Name: Rare bone tumor
OrphaCode: 68411
DisorderType: Category
Children: Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Aneurysmal bone cyst
OrphaCode: 480553
DisorderType: Disease
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Adamantinoma
OrphaCode: 55881
DisorderType: Disease
Name: Osteoblastoma
OrphaCode: 58040
DisorderType: Disease
Name: Solitary bone cyst
OrphaCode: 83468
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Bone sarcoma
OrphaCode: 223727
DisorderType: Clinical group
Children: Name: Undifferentiated pleomorphic sarcoma
OrphaCode: 2023
DisorderType: Disease
Name: Fibrosarcoma
OrphaCode: 2030
DisorderType: Disease
Name: Osteosarcoma
OrphaCode: 668
DisorderType: Disease
Name: Skeletal Ewing sarcoma
OrphaCode: 319
DisorderType: Disease
Name: Chondrosarcoma
OrphaCode: 55880
DisorderType: Disease
Name: Giant cell tumor of bone
OrphaCode: 363976
DisorderType: Disease
Name: Peripheral primitive neuroectodermal tumor
OrphaCode: 370348
DisorderType: Disease
Name: Chondromyxoid fibroma
OrphaCode: 404507
DisorderType: Disease
Name: Familial ossifying fibroma
OrphaCode: 435329
DisorderType: Disease
Name: Lysosomal storage disease with skeletal involvement
OrphaCode: 93448
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Mucolipidosis type III
OrphaCode: 577
DisorderType: Disease
Children: Name: Mucolipidosis type III alpha/beta
OrphaCode: 423461
DisorderType: Clinical subtype
Name: Mucolipidosis type III gamma
OrphaCode: 423470
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Dysplasia of head of femur, Meyer type
OrphaCode: 168621
DisorderType: Disease
Name: Congenital vascular bone syndrome
OrphaCode: 235832
DisorderType: Clinical group
Children: Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Angioosteohypotrophic syndrome
OrphaCode: 75508
DisorderType: Malformation syndrome
Name: Primary intraosseous venous malformation
OrphaCode: 140436
DisorderType: Disease
Name: Inverse Klippel-Trénaunay syndrome
OrphaCode: 329324
DisorderType: Disease
Name: Sagliker syndrome
OrphaCode: 300493
DisorderType: Particular clinical situation in a disease or syndrome
Name: Oncogenic osteomalacia
OrphaCode: 352540
DisorderType: Disease
Name: Primary bone dysplasia
OrphaCode: 364526
DisorderType: Category
Children: Name: Genetic inflammatory or rheumatoid-like osteoarthropathy
OrphaCode: 498445
DisorderType: Category
Children: Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Overgrowth or tall stature syndrome with skeletal involvement
OrphaCode: 498448
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
OrphaCode: 498485
DisorderType: Malformation syndrome
Name: Kosaki overgrowth syndrome
OrphaCode: 477831
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with micromelia
OrphaCode: 364536
DisorderType: Category
Children: Name: Achondroplasia
OrphaCode: 15
DisorderType: Disease
Name: Hypochondroplasia
OrphaCode: 429
DisorderType: Disease
Name: Diastrophic dysplasia
OrphaCode: 628
DisorderType: Disease
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Otopalatodigital syndrome spectrum disorder
OrphaCode: 364541
DisorderType: Clinical group
Children: Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Frank-Ter Haar syndrome
OrphaCode: 137834
DisorderType: Disease
Name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OrphaCode: 435804
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OrphaCode: 253
DisorderType: Clinical group
Children: Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Hip dysplasia, Beukes type
OrphaCode: 2114
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Metatropic dysplasia
OrphaCode: 2635
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Spondyloperipheral dysplasia-short ulna syndrome
OrphaCode: 1856
DisorderType: Disease
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Brachydactylous dwarfism, Mseleni type
OrphaCode: 2619
DisorderType: Disease
Name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OrphaCode: 93279
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, PAPSS2 type
OrphaCode: 93282
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Kimberley type
OrphaCode: 93283
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda
OrphaCode: 93284
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
OrphaCode: 93346
DisorderType: Disease
Name: Anauxetic dysplasia
OrphaCode: 93347
DisorderType: Disease
Name: X-linked spondyloepimetaphyseal dysplasia
OrphaCode: 93349
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Irapa type
OrphaCode: 93351
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Shohat type
OrphaCode: 93352
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Missouri type
OrphaCode: 93356
DisorderType: Disease
Name: SPONASTRIME dysplasia
OrphaCode: 93357
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OrphaCode: 93358
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia congenita
OrphaCode: 94068
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Handigodu type
OrphaCode: 99642
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia with metatarsal shortening
OrphaCode: 137678
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, matrilin-3 type
OrphaCode: 156728
DisorderType: Disease
Name: Dyssegmental dysplasia, Rolland-Desbuquois type
OrphaCode: 156731
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
OrphaCode: 163654
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Reardon type
OrphaCode: 163662
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
OrphaCode: 168443
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
OrphaCode: 168451
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Geneviève type
OrphaCode: 168454
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, aggrecan type
OrphaCode: 171866
DisorderType: Disease
Name: Smith-McCort dysplasia
OrphaCode: 178355
DisorderType: Disease
Name: Spondylo-megaepiphyseal-metaphyseal dysplasia
OrphaCode: 228387
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Maroteaux type
OrphaCode: 263482
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OrphaCode: 370015
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, Stanescu type
OrphaCode: 459051
DisorderType: Disease
Name: Spondylometaphyseal dysplasia
OrphaCode: 254
DisorderType: Clinical group
Children: Name: Spondylometaphyseal dysplasia, A4 type
OrphaCode: 168555
DisorderType: Disease
Name: Regressive spondylometaphyseal dysplasia
OrphaCode: 448267
DisorderType: Malformation syndrome
Name: Spondyloenchondrodysplasia
OrphaCode: 1855
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Kozlowski type
OrphaCode: 93314
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, 'corner fracture' type
OrphaCode: 93315
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Schmidt type
OrphaCode: 93316
DisorderType: Disease
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Golden type
OrphaCode: 168544
DisorderType: Disease
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
OrphaCode: 168552
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Ciliopathies with major skeletal involvement
OrphaCode: 93426
DisorderType: Category
Children: Name: Short rib-polydactyly syndrome
OrphaCode: 1505
DisorderType: Clinical group
Children: Name: Short rib-polydactyly syndrome type 5
OrphaCode: 498497
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Beemer-Langer type
OrphaCode: 93268
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Majewski type
OrphaCode: 93269
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Thoracomelic dysplasia
OrphaCode: 1803
DisorderType: Disease
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: Multiple epiphyseal dysplasia and pseudoachondroplasia
OrphaCode: 93429
DisorderType: Category
Children: Name: Multiple epiphyseal dysplasia
OrphaCode: 251
DisorderType: Clinical group
Children: Name: Multiple epiphyseal dysplasia type 4
OrphaCode: 93307
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 1
OrphaCode: 93308
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 5
OrphaCode: 93311
DisorderType: Disease
Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
OrphaCode: 166002
DisorderType: Disease
Name: Multiple epiphyseal dysplasia, Lowry type
OrphaCode: 166016
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
OrphaCode: 166024
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
OrphaCode: 166029
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-miniepiphyses syndrome
OrphaCode: 166032
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 7
OrphaCode: 647676
DisorderType: Disease
Name: Lowry-Wood syndrome
OrphaCode: 1824
DisorderType: Disease
Name: Pseudoachondroplasia
OrphaCode: 750
DisorderType: Disease
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Multiple metaphyseal dysplasia
OrphaCode: 93430
DisorderType: Clinical group
Children: Name: Metaphyseal anadysplasia
OrphaCode: 1040
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Metaphyseal chondrodysplasia, Schmid type
OrphaCode: 174
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Rosenberg type
OrphaCode: 1837
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Spahr type
OrphaCode: 2501
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
OrphaCode: 2504
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Jansen type
OrphaCode: 33067
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Kaitila type
OrphaCode: 166038
DisorderType: Disease
Name: Spondylodysplastic dysplasia
OrphaCode: 93434
DisorderType: Clinical group
Children: Name: SBDS-related severe neonatal spondylometaphyseal dysplasia
OrphaCode: 622934
DisorderType: Malformation syndrome
Name: Opsismodysplasia
OrphaCode: 2746
DisorderType: Disease
Name: Achondrogenesis
OrphaCode: 932
DisorderType: Disease
Children: Name: Achondrogenesis type 2
OrphaCode: 93296
DisorderType: Clinical subtype
Name: Hypochondrogenesis
OrphaCode: 93297
DisorderType: Clinical subtype
Name: Achondrogenesis type 1B
OrphaCode: 93298
DisorderType: Clinical subtype
Name: Achondrogenesis type 1A
OrphaCode: 93299
DisorderType: Clinical subtype
Name: Brachyolmia
OrphaCode: 1293
DisorderType: Clinical group
Children: Name: Autosomal recessive brachyolmia
OrphaCode: 448242
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Brachyolmia, Maroteaux type
OrphaCode: 93302
DisorderType: Malformation syndrome
Name: Autosomal dominant brachyolmia
OrphaCode: 93304
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Spondylocamptodactyly syndrome
OrphaCode: 3180
DisorderType: Malformation syndrome
Name: Spondylocarpotarsal synostosis
OrphaCode: 3275
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Platyspondylic dysplasia, Torrance type
OrphaCode: 85166
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Sedaghatian type
OrphaCode: 93317
DisorderType: Malformation syndrome
Name: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
OrphaCode: 401979
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Acromelic dysplasia
OrphaCode: 93436
DisorderType: Clinical group
Children: Name: MIR140-related spondyloepiphyseal dysplasia
OrphaCode: 623695
DisorderType: Malformation syndrome
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Acromicric dysplasia
OrphaCode: 969
DisorderType: Malformation syndrome
Name: Geleophysic dysplasia
OrphaCode: 2623
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Angel-shaped phalango-epiphyseal dysplasia
OrphaCode: 63442
DisorderType: Malformation syndrome
Name: Acrocapitofemoral dysplasia
OrphaCode: 63446
DisorderType: Malformation syndrome
Name: Craniofacial conodysplasia
OrphaCode: 85168
DisorderType: Malformation syndrome
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Acromesomelic dysplasia
OrphaCode: 93437
DisorderType: Clinical group
Children: Name: Acromesomelic dysplasia, Hunter-Thompson type
OrphaCode: 968
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Maroteaux type
OrphaCode: 40
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Grebe type
OrphaCode: 2098
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Mesomelic and rhizo-mesomelic dysplasia
OrphaCode: 93438
DisorderType: Clinical group
Children: Name: Léri-Weill dyschondrosteosis
OrphaCode: 240
DisorderType: Malformation syndrome
Name: Cleidorhizomelic syndrome
OrphaCode: 1453
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Kantaputra type
OrphaCode: 1836
DisorderType: Malformation syndrome
Name: Fibrochondrogenesis
OrphaCode: 2021
DisorderType: Disease
Name: Upper limb mesomelic dysplasia, type Fryns
OrphaCode: 2497
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Langer mesomelic dysplasia
OrphaCode: 2632
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Nievergelt type
OrphaCode: 2633
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism, Reinhardt-Pfeiffer type
OrphaCode: 2634
DisorderType: Malformation syndrome
Name: Omodysplasia
OrphaCode: 2733
DisorderType: Malformation syndrome
Children: Name: Autosomal dominant omodysplasia
OrphaCode: 93328
DisorderType: Clinical subtype
Name: Autosomal recessive omodysplasia
OrphaCode: 93329
DisorderType: Clinical subtype
Name: Rhizomelic syndrome, Urbach type
OrphaCode: 3098
DisorderType: Malformation syndrome
Name: Rhizomelic dysplasia, Patterson-Lowry type
OrphaCode: 2831
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Savarirayan type
OrphaCode: 85170
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: SHOX-related short stature
OrphaCode: 314795
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: Campomelic dysplasia and related disorders
OrphaCode: 93439
DisorderType: Clinical group
Children: Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Kyphomelic dysplasia
OrphaCode: 1801
DisorderType: Malformation syndrome
Name: Blount disease
OrphaCode: 2768
DisorderType: Malformation syndrome
Name: Weismann-Netter syndrome
OrphaCode: 3344
DisorderType: Malformation syndrome
Name: Stüve-Wiedemann syndrome
OrphaCode: 3206
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
OrphaCode: 324307
DisorderType: Malformation syndrome
Name: Slender bone dysplasia
OrphaCode: 93440
DisorderType: Clinical group
Children: Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OrphaCode: 314394
DisorderType: Disease
Name: Thin ribs-tubular bones-dysmorphism syndrome
OrphaCode: 1506
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Primary bone dysplasia with multiple joint dislocations
OrphaCode: 93441
DisorderType: Clinical group
Children: Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Larsen-like osseous dysplasia-short stature syndrome
OrphaCode: 2370
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Auriculoosteodysplasia
OrphaCode: 114
DisorderType: Malformation syndrome
Name: Boomerang dysplasia
OrphaCode: 1263
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Coxoauricular syndrome
OrphaCode: 1508
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: Chondrodysplasia with joint dislocations, gPAPP type
OrphaCode: 280586
DisorderType: Malformation syndrome
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Steel syndrome
OrphaCode: 438117
DisorderType: Disease
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: Chondrodysplasia punctata
OrphaCode: 93442
DisorderType: Clinical group
Children: Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Non-rhizomelic chondrodysplasia punctata
OrphaCode: 176
DisorderType: Clinical group
Children: Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Brachytelephalangic chondrodysplasia punctata
OrphaCode: 79345
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, tibial-metacarpal type
OrphaCode: 79346
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, Toriello type
OrphaCode: 79347
DisorderType: Malformation syndrome
Name: Astley-Kendall dysplasia
OrphaCode: 85175
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with increased bone density
OrphaCode: 93444
DisorderType: Category
Children: Name: Juvenile Paget disease
OrphaCode: 2801
DisorderType: Malformation syndrome
Name: Camurati-Engelmann disease
OrphaCode: 1328
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Craniofacial dysostosis-diaphyseal hyperplasia syndrome
OrphaCode: 1798
DisorderType: Malformation syndrome
Name: Ghosal hematodiaphyseal dysplasia
OrphaCode: 1802
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Endosteal hyperostosis, Worth type
OrphaCode: 2790
DisorderType: Malformation syndrome
Name: Pyle disease
OrphaCode: 3005
DisorderType: Disease
Name: Sclerosteosis
OrphaCode: 3152
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Hyperostosis corticalis generalisata
OrphaCode: 3416
DisorderType: Malformation syndrome
Name: Dysplastic cortical hyperostosis
OrphaCode: 646139
DisorderType: Malformation syndrome
Children: Name: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
OrphaCode: 2204
DisorderType: Clinical subtype
Name: Dysplastic cortical hyperostosis, Al-Gazali type
OrphaCode: 646136
DisorderType: Clinical subtype
Name: Osteopetrosis and related disorders
OrphaCode: 2781
DisorderType: Clinical group
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Isolated osteopoikilosis
OrphaCode: 166119
DisorderType: Disease
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Intermediate osteopetrosis
OrphaCode: 210110
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Dysosteosclerosis
OrphaCode: 1782
DisorderType: Malformation syndrome
Name: Melorheostosis with osteopoikilosis
OrphaCode: 1879
DisorderType: Malformation syndrome
Name: Melorheostosis
OrphaCode: 2485
DisorderType: Malformation syndrome
Name: Osteomesopyknosis
OrphaCode: 2777
DisorderType: Malformation syndrome
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Autosomal dominant osteopetrosis type 1
OrphaCode: 2783
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Infantile osteopetrosis with neuroaxonal dysplasia
OrphaCode: 85179
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Osteosclerotic metaphyseal dysplasia
OrphaCode: 500548
DisorderType: Malformation syndrome
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Craniometadiaphyseal dysplasia, wormian bone type
OrphaCode: 85184
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia, Braun-Tinschert type
OrphaCode: 85188
DisorderType: Malformation syndrome
Name: Neonatal osteosclerotic dysplasia
OrphaCode: 93443
DisorderType: Clinical group
Children: Name: Caffey disease
OrphaCode: 1310
DisorderType: Malformation syndrome
Name: Osteosclerotic bone dysplasia
OrphaCode: 1832
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Primary hypertrophic osteoarthropathy
OrphaCode: 248095
DisorderType: Clinical group
Children: Name: Cranio-osteoarthropathy
OrphaCode: 1525
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: High bone mass osteogenesis imperfecta
OrphaCode: 314029
DisorderType: Disease
Name: Mixed sclerosing bone dystrophy with extra-skeletal manifestations
OrphaCode: 324364
DisorderType: Disease
Name: X-linked calvarial hyperostosis
OrphaCode: 391327
DisorderType: Disease
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Primary bone dysplasia with decreased bone density
OrphaCode: 93446
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta
OrphaCode: 666
DisorderType: Disease
Children: Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 5
OrphaCode: 216828
DisorderType: Clinical subtype
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Osteoporosis-oculocutaneous hypopigmentation syndrome
OrphaCode: 2786
DisorderType: Malformation syndrome
Name: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OrphaCode: 2787
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Complex lethal osteochondrodysplasia
OrphaCode: 457378
DisorderType: Malformation syndrome
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Singleton-Merten dysplasia
OrphaCode: 85191
DisorderType: Malformation syndrome
Name: Calvarial doughnut lesions-bone fragility syndrome
OrphaCode: 85192
DisorderType: Malformation syndrome
Name: Idiopathic juvenile osteoporosis
OrphaCode: 85193
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: X-linked osteoporosis with fractures
OrphaCode: 391330
DisorderType: Disease
Name: LRP5-related primary osteoporosis
OrphaCode: 498481
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Primary bone dysplasia with defective bone mineralization
OrphaCode: 93447
DisorderType: Category
Children: Name: Familial calcium pyrophosphate deposition
OrphaCode: 1416
DisorderType: Disease
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Primary osteolysis
OrphaCode: 93449
DisorderType: Category
Children: Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Epiphyseal stippling-osteoclastic hyperplasia syndrome
OrphaCode: 1952
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Talo-patello-scaphoid osteolysis
OrphaCode: 50809
DisorderType: Malformation syndrome
Name: Familial expansile osteolysis
OrphaCode: 85195
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Phalangeal microgeodic syndrome
OrphaCode: 352636
DisorderType: Disease
Name: Multicentric osteolysis-nodulosis-arthropathy spectrum
OrphaCode: 371428
DisorderType: Disease
Name: Primary bone dysplasia with disorganized development of skeletal components
OrphaCode: 93450
DisorderType: Category
Children: Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Fibrous dysplasia/McCune-Albright syndrome
OrphaCode: 595216
DisorderType: Clinical group
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Fibrous dysplasia of bone
OrphaCode: 249
DisorderType: Malformation syndrome
Children: Name: Polyostotic fibrous dysplasia
OrphaCode: 93276
DisorderType: Clinical subtype
Name: Monostotic fibrous dysplasia
OrphaCode: 93277
DisorderType: Clinical subtype
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Dysplasia epiphysealis hemimelica
OrphaCode: 1822
DisorderType: Malformation syndrome
Name: Exostoses-anetodermia-brachydactyly type E syndrome
OrphaCode: 1962
DisorderType: Malformation syndrome
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Metachondromatosis
OrphaCode: 2499
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Carpotarsal osteochondromatosis
OrphaCode: 2767
DisorderType: Malformation syndrome
Name: Short stature, Brussels type
OrphaCode: 2867
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Upington disease
OrphaCode: 3408
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Mazabraud syndrome
OrphaCode: 57782
DisorderType: Malformation syndrome
Name: Genochondromatosis type 1
OrphaCode: 85197
DisorderType: Disease
Name: Dysspondyloenchondromatosis
OrphaCode: 85198
DisorderType: Malformation syndrome
Name: Genochondromatosis type 2
OrphaCode: 93398
DisorderType: Disease
Name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
OrphaCode: 99646
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Osteofibrous dysplasia
OrphaCode: 488265
DisorderType: Disease
Name: Cleidocranial dysplasia and isolated cranial ossification defect
OrphaCode: 93451
DisorderType: Category
Children: Name: Parietal foramina with clavicular hypoplasia
OrphaCode: 251290
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Lethal chondrodysplasia
OrphaCode: 93465
DisorderType: Category
Children: Name: Bone dysplasia, lethal Holmgren type
OrphaCode: 1842
DisorderType: Malformation syndrome
Name: Lethal Kniest-like dysplasia
OrphaCode: 2347
DisorderType: Malformation syndrome
Name: Pyknoachondrogenesis
OrphaCode: 3003
DisorderType: Malformation syndrome
Name: Lethal recessive chondrodysplasia
OrphaCode: 1423
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
OrphaCode: 364531
DisorderType: Category
Children: Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Dysostosis
OrphaCode: 364559
DisorderType: Category
Children: Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: 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 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 10
OrphaCode: 662216
DisorderType: Disease
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
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 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: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Congenital pseudoarthrosis of the clavicle
OrphaCode: 66630
DisorderType: Disease
Name: Dysostosis with predominant craniofacial involvement
OrphaCode: 93453
DisorderType: Category
Children: Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia
OrphaCode: 250
DisorderType: Clinical group
Children: Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia-Poland anomaly syndrome
OrphaCode: 1521
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Oculoauriculofrontonasal syndrome
OrphaCode: 398156
DisorderType: Malformation syndrome
Name: SIX2-related frontonasal dysplasia
OrphaCode: 488437
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
OrphaCode: 521308
DisorderType: Malformation syndrome
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Familial osteodysplasia, Anderson type
OrphaCode: 2769
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Dobrow syndrome
OrphaCode: 3262
DisorderType: Malformation syndrome
Name: Dysostosis with predominant vertebral and costal involvement
OrphaCode: 93454
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Ankylosing vertebral hyperostosis with tylosis
OrphaCode: 2206
DisorderType: Malformation syndrome
Name: Melhem-Fahl syndrome
OrphaCode: 2482
DisorderType: Malformation syndrome
Name: Imperforate oropharynx-costovertebral anomalies syndrome
OrphaCode: 2759
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Autosomal dominant spondylocostal dysostosis
OrphaCode: 1797
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OrphaCode: 85164
DisorderType: Disease
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Patellar dysostosis
OrphaCode: 93455
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Coxopodopatellar syndrome
OrphaCode: 1509
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Dysostosis with limb anomaly as a major feature
OrphaCode: 364568
DisorderType: Category
Children: Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Tel Hashomer camptodactyly syndrome
OrphaCode: 3292
DisorderType: Malformation syndrome
Name: Ectrodactyly with and without other manifestations
OrphaCode: 498477
DisorderType: Category
Children: Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Isolated split hand-split foot malformation
OrphaCode: 2440
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Syndrome with limb reduction defects
OrphaCode: 294955
DisorderType: Category
Children: Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Thalidomide embryopathy
OrphaCode: 3312
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Dysostosis with limb and face anomalies as a major feature
OrphaCode: 364571
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis
OrphaCode: 364574
DisorderType: Clinical group
Children: Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Acrofrontofacionasal dysostosis
OrphaCode: 1784
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Osteonecrosis
OrphaCode: 399158
DisorderType: Category
Children: Name: Mueller-Weiss syndrome
OrphaCode: 566943
DisorderType: Disease
Name: Osteochondrosis
OrphaCode: 399319
DisorderType: Category
Children: Name: Legg-Calvé-Perthes disease
OrphaCode: 2380
DisorderType: Disease
Name: Thiemann disease, familial form
OrphaCode: 3314
DisorderType: Disease
Name: Medial condensing osteitis of the clavicle
OrphaCode: 57196
DisorderType: Disease
Name: Kienbock disease
OrphaCode: 97332
DisorderType: Disease
Name: Osgood-Schlatter disease
OrphaCode: 97335
DisorderType: Disease
Name: Panner disease
OrphaCode: 97336
DisorderType: Disease
Name: Sinding-Larsen-Johansson disease
OrphaCode: 97337
DisorderType: Disease
Name: Osteochondrosis of the metatarsal bone
OrphaCode: 564003
DisorderType: Disease
Name: Osteochondrosis of the tarsal bone
OrphaCode: 563991
DisorderType: Disease
Name: Epiphysiolysis of the hip
OrphaCode: 399329
DisorderType: Disease
Name: Idiopathic phalangeal acro-osteolysis
OrphaCode: 444316
DisorderType: Disease
Name: Osteochondritis dissecans
OrphaCode: 2764
DisorderType: Disease
Name: Familial osteochondritis dissecans
OrphaCode: 251262
DisorderType: Disease
Name: Avascular necrosis
OrphaCode: 399164
DisorderType: Category
Children: Name: Secondary avascular necrosis
OrphaCode: 399169
DisorderType: Category
Children: Name: Traumatic avascular necrosis
OrphaCode: 399175
DisorderType: Disease
Name: Secondary non-traumatic avascular necrosis
OrphaCode: 399180
DisorderType: Disease
Name: Rare hereditary disease with avascular necrosis
OrphaCode: 399185
DisorderType: Category
Children: Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Rare hereditary thrombophilia
OrphaCode: 217454
DisorderType: Clinical group
Children: Name: Severe hereditary thrombophilia due to congenital protein S deficiency
OrphaCode: 743
DisorderType: Disease
Name: Severe hereditary thrombophilia due to congenital protein C deficiency
OrphaCode: 745
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital antithrombin deficiency
OrphaCode: 82
DisorderType: Disease
Name: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
OrphaCode: 217467
DisorderType: Disease
Name: Osteonecrosis of the jaw
OrphaCode: 399293
DisorderType: Disease
Name: Primary avascular necrosis
OrphaCode: 399302
DisorderType: Clinical group
Children: Name: Familial avascular necrosis of femoral head
OrphaCode: 86820
DisorderType: Disease
Name: Idiopathic avascular necrosis
OrphaCode: 399307
DisorderType: Disease
Name: Osteoradionecrosis of the mandible
OrphaCode: 521127
DisorderType: Disease
Name: Primary bone and joint tuberculosis
OrphaCode: 645822
DisorderType: Disease
Name: Idiopathic pregnancy-associated osteoporosis
OrphaCode: 647823
DisorderType: Disease