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- Rare bone disease ORPHA:93419
- Rare bone tumor ORPHA:68411
- Chordoma ORPHA:178
- Aneurysmal bone cyst ORPHA:480553
- Ollier disease ORPHA:296
- OSLAM syndrome ORPHA:2760
- Multiple osteochondromas ORPHA:321
- Adamantinoma ORPHA:55881
- Osteoblastoma ORPHA:58040
- Solitary bone cyst ORPHA:83468
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Maffucci syndrome ORPHA:163634
- Bone sarcoma ORPHA:223727
- Undifferentiated pleomorphic sarcoma ORPHA:2023
- Fibrosarcoma ORPHA:2030
- Osteosarcoma ORPHA:668
- Skeletal Ewing sarcoma ORPHA:319
- Chondrosarcoma ORPHA:55880
- Giant cell tumor of bone ORPHA:363976
- Peripheral primitive neuroectodermal tumor ORPHA:370348
- Chondromyxoid fibroma ORPHA:404507
- Familial ossifying fibroma ORPHA:435329
- Lysosomal storage disease with skeletal involvement ORPHA:93448
- Alpha-mannosidosis ORPHA:61
- Aspartylglucosaminuria ORPHA:93
- Multiple sulfatase deficiency ORPHA:585
- Beta-mannosidosis ORPHA:118
- Fucosidosis ORPHA:349
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucolipidosis type II ORPHA:576
- Mucolipidosis type III ORPHA:577
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 1 ORPHA:579
- Galactosialidosis ORPHA:351
- Free sialic acid storage disease, infantile form ORPHA:309324
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 1 ORPHA:79255
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Sialidosis type 2 ORPHA:87876
- Mucopolysaccharidosis type 10 ORPHA:662216
- Dysplasia of head of femur, Meyer type ORPHA:168621
- Congenital vascular bone syndrome ORPHA:235832
- Sagliker syndrome ORPHA:300493
- Oncogenic osteomalacia ORPHA:352540
- Primary bone dysplasia ORPHA:364526
- Genetic inflammatory or rheumatoid-like osteoarthropathy ORPHA:498445
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Hyaline fibromatosis syndrome ORPHA:498474
- CINCA syndrome ORPHA:1451
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Majeed syndrome ORPHA:77297
- Familial tumoral calcinosis ORPHA:53715
- Overgrowth or tall stature syndrome with skeletal involvement ORPHA:498448
- X-linked severe syndromic thoracic aortic aneurysm and dissection ORPHA:622925
- PRC-2 complex-related overgrowth spectrum ORPHA:659387
- Weaver syndrome ORPHA:3447
- Cohen-Gibson syndrome ORPHA:659396
- Imagawa-Matsumoto syndrome ORPHA:659463
- Marfan syndrome ORPHA:558
- Sotos syndrome ORPHA:821
- Marshall-Smith syndrome ORPHA:561
- Proteus syndrome ORPHA:744
- CLOVES syndrome ORPHA:140944
- Congenital contractural arachnodactyly ORPHA:115
- Loeys-Dietz syndrome ORPHA:60030
- Overgrowth syndrome with 2q37 translocation ORPHA:498488
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome ORPHA:498485
- Kosaki overgrowth syndrome ORPHA:477831
- Luscan-Lumish syndrome ORPHA:597738
- Primary bone dysplasia with micromelia ORPHA:364536
- Achondroplasia ORPHA:15
- Hypochondroplasia ORPHA:429
- Diastrophic dysplasia ORPHA:628
- Thanatophoric dysplasia ORPHA:2655
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome ORPHA:85165
- Otopalatodigital syndrome spectrum disorder ORPHA:364541
- Otopalatodigital syndrome type 2 ORPHA:90652
- Frontometaphyseal dysplasia ORPHA:1826
- Melnick-Needles syndrome ORPHA:2484
- Otopalatodigital syndrome type 1 ORPHA:90650
- Frank-Ter Haar syndrome ORPHA:137834
- Short stature-advanced bone age-early-onset osteoarthritis syndrome ORPHA:435804
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia ORPHA:253
- MGP-related spondyloepiphyseal dysplasia ORPHA:664377
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- CODAS syndrome ORPHA:1458
- Hip dysplasia, Beukes type ORPHA:2114
- Schwartz-Jampel syndrome ORPHA:800
- Dyggve-Melchior-Clausen disease ORPHA:239
- Marshall syndrome ORPHA:560
- Metatropic dysplasia ORPHA:2635
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Progressive pseudorheumatoid dysplasia ORPHA:1159
- Autosomal recessive otospondylomegaepiphyseal dysplasia ORPHA:1427
- Wolcott-Rallison syndrome ORPHA:1667
- Schimke immuno-osseous dysplasia ORPHA:1830
- Dyssegmental dysplasia, Silverman-Handmaker type ORPHA:1865
- Kniest dysplasia ORPHA:485
- Richieri Costa-da Silva syndrome ORPHA:3101
- Spondyloperipheral dysplasia-short ulna syndrome ORPHA:1856
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome ORPHA:83629
- Brachydactylous dwarfism, Mseleni type ORPHA:2619
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis ORPHA:93279
- Spondyloepimetaphyseal dysplasia, PAPSS2 type ORPHA:93282
- Spondyloepiphyseal dysplasia, Kimberley type ORPHA:93283
- Spondyloepiphyseal dysplasia tarda ORPHA:93284
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type ORPHA:93346
- Anauxetic dysplasia ORPHA:93347
- X-linked spondyloepimetaphyseal dysplasia ORPHA:93349
- Spondyloepimetaphyseal dysplasia, Irapa type ORPHA:93351
- Spondyloepimetaphyseal dysplasia, Shohat type ORPHA:93352
- Spondyloepimetaphyseal dysplasia, Missouri type ORPHA:93356
- SPONASTRIME dysplasia ORPHA:93357
- Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome ORPHA:93358
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Spondyloepiphyseal dysplasia congenita ORPHA:94068
- Spondyloepimetaphyseal dysplasia, Handigodu type ORPHA:99642
- Spondyloepiphyseal dysplasia with metatarsal shortening ORPHA:137678
- Spondyloepimetaphyseal dysplasia, matrilin-3 type ORPHA:156728
- Dyssegmental dysplasia, Rolland-Desbuquois type ORPHA:156731
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:157965
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome ORPHA:163654
- Spondyloepiphyseal dysplasia, Reardon type ORPHA:163662
- Spondyloepiphyseal dysplasia tarda, Kohn type ORPHA:163665
- Spondyloepiphyseal dysplasia, MacDermot type ORPHA:163668
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome ORPHA:168443
- Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome ORPHA:168451
- Spondyloepimetaphyseal dysplasia, Geneviève type ORPHA:168454
- Spondyloepimetaphyseal dysplasia, aggrecan type ORPHA:171866
- Smith-McCort dysplasia ORPHA:178355
- Spondylo-megaepiphyseal-metaphyseal dysplasia ORPHA:228387
- Spondyloepimetaphyseal dysplasia, Maroteaux type ORPHA:263482
- Roifman syndrome ORPHA:353298
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type ORPHA:370015
- Cono-spondylar dysplasia ORPHA:420794
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ORPHA:436174
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- EVEN-plus syndrome ORPHA:496751
- Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome ORPHA:611207
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome ORPHA:457395
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome ORPHA:459070
- Spondyloepiphyseal dysplasia, Stanescu type ORPHA:459051
- Spondylometaphyseal dysplasia ORPHA:254
- Spondylometaphyseal dysplasia, A4 type ORPHA:168555
- Regressive spondylometaphyseal dysplasia ORPHA:448267
- Spondyloenchondrodysplasia ORPHA:1855
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome ORPHA:85167
- Spondylometaphyseal dysplasia, Kozlowski type ORPHA:93314
- Spondylometaphyseal dysplasia, 'corner fracture' type ORPHA:93315
- Spondylometaphyseal dysplasia, Schmidt type ORPHA:93316
- Odontochondrodysplasia ORPHA:166272
- Spondylometaphyseal dysplasia, Golden type ORPHA:168544
- Axial spondylometaphyseal dysplasia ORPHA:168549
- Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome ORPHA:168552
- Spondylometaphyseal dysplasia-corneal dystrophy syndrome ORPHA:589435
- Ciliopathies with major skeletal involvement ORPHA:93426
- Short rib-polydactyly syndrome ORPHA:1505
- Short rib-polydactyly syndrome type 5 ORPHA:498497
- Jeune syndrome ORPHA:474
- Ellis Van Creveld syndrome ORPHA:289
- Cranioectodermal dysplasia ORPHA:1515
- Short rib-polydactyly syndrome, Beemer-Langer type ORPHA:93268
- Short rib-polydactyly syndrome, Majewski type ORPHA:93269
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715
- Thoracomelic dysplasia ORPHA:1803
- Orofaciodigital syndrome type 4 ORPHA:2753
- Thoracolaryngopelvic dysplasia ORPHA:3317
- Saldino-Mainzer syndrome ORPHA:140969
- NEK9-related lethal skeletal dysplasia ORPHA:464366
- Thoracic dysplasia-hydrocephalus syndrome ORPHA:1861
- Multiple epiphyseal dysplasia and pseudoachondroplasia ORPHA:93429
- Multiple epiphyseal dysplasia ORPHA:251
- Multiple epiphyseal dysplasia type 4 ORPHA:93307
- Multiple epiphyseal dysplasia type 1 ORPHA:93308
- Multiple epiphyseal dysplasia type 5 ORPHA:93311
- Multiple epiphyseal dysplasia due to collagen 9 anomaly ORPHA:166002
- Multiple epiphyseal dysplasia, Lowry type ORPHA:166016
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome ORPHA:166024
- Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome ORPHA:166029
- Multiple epiphyseal dysplasia-miniepiphyses syndrome ORPHA:166032
- Multiple epiphyseal dysplasia type 7 ORPHA:647676
- Lowry-Wood syndrome ORPHA:1824
- Pseudoachondroplasia ORPHA:750
- Autosomal recessive Stickler syndrome ORPHA:250984
- Multiple metaphyseal dysplasia ORPHA:93430
- Metaphyseal anadysplasia ORPHA:1040
- Eiken syndrome ORPHA:79106
- Metaphyseal chondrodysplasia, Schmid type ORPHA:174
- Metaphyseal chondrodysplasia, Rosenberg type ORPHA:1837
- Metaphyseal chondrodysplasia, Spahr type ORPHA:2501
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ORPHA:2502
- Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ORPHA:2504
- Cartilage-hair hypoplasia ORPHA:175
- Shwachman-Diamond syndrome ORPHA:811
- Metaphyseal chondrodysplasia, Jansen type ORPHA:33067
- Metaphyseal chondrodysplasia, Kaitila type ORPHA:166038
- Spondylodysplastic dysplasia ORPHA:93434
- SBDS-related severe neonatal spondylometaphyseal dysplasia ORPHA:622934
- Opsismodysplasia ORPHA:2746
- Achondrogenesis ORPHA:932
- Achondrogenesis type 2 ORPHA:93296
- Hypochondrogenesis ORPHA:93297
- Achondrogenesis type 1B ORPHA:93298
- Achondrogenesis type 1A ORPHA:93299
- Brachyolmia ORPHA:1293
- Autosomal recessive brachyolmia ORPHA:448242
- Brachyolmia-amelogenesis imperfecta syndrome ORPHA:2899
- Brachyolmia, Maroteaux type ORPHA:93302
- Autosomal dominant brachyolmia ORPHA:93304
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Schneckenbecken dysplasia ORPHA:3144
- Spondylocamptodactyly syndrome ORPHA:3180
- Spondylocarpotarsal synostosis ORPHA:3275
- Diaphanospondylodysostosis ORPHA:66637
- Platyspondylic dysplasia, Torrance type ORPHA:85166
- Spondylometaphyseal dysplasia, Sedaghatian type ORPHA:93317
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type ORPHA:401979
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Acromelic dysplasia ORPHA:93436
- MIR140-related spondyloepiphyseal dysplasia ORPHA:623695
- Short stature-brachydactyly-obesity-global developmental delay syndrome ORPHA:464288
- Weill-Marchesani syndrome ORPHA:3449
- Acrodysostosis ORPHA:950
- Acromicric dysplasia ORPHA:969
- Geleophysic dysplasia ORPHA:2623
- Intellectual disability-balding-patella luxation-acromicria syndrome ORPHA:3041
- Angel-shaped phalango-epiphyseal dysplasia ORPHA:63442
- Acrocapitofemoral dysplasia ORPHA:63446
- Craniofacial conodysplasia ORPHA:85168
- Terminal osseous dysplasia-pigmentary defects syndrome ORPHA:88630
- Trichorhinophalangeal syndrome ORPHA:324764
- Myhre syndrome ORPHA:2588
- Pseudohypoparathyroidism with Albright hereditary osteodystrophy ORPHA:457059
- Acromesomelic dysplasia ORPHA:93437
- Acromesomelic dysplasia, Hunter-Thompson type ORPHA:968
- Acromesomelic dysplasia, Maroteaux type ORPHA:40
- Acromesomelic dysplasia, Grebe type ORPHA:2098
- Mesomelia-synostoses syndrome ORPHA:2496
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Brachydactyly type A6 ORPHA:93382
- Mesomelic and rhizo-mesomelic dysplasia ORPHA:93438
- Léri-Weill dyschondrosteosis ORPHA:240
- Cleidorhizomelic syndrome ORPHA:1453
- Mesomelic dysplasia, Kantaputra type ORPHA:1836
- Fibrochondrogenesis ORPHA:2021
- Upper limb mesomelic dysplasia, type Fryns ORPHA:2497
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Langer mesomelic dysplasia ORPHA:2632
- Mesomelic dysplasia, Nievergelt type ORPHA:2633
- Mesomelic dwarfism, Reinhardt-Pfeiffer type ORPHA:2634
- Omodysplasia ORPHA:2733
- Rhizomelic syndrome, Urbach type ORPHA:3098
- Rhizomelic dysplasia, Patterson-Lowry type ORPHA:2831
- Atelosteogenesis type II ORPHA:56304
- Mesomelic dysplasia, Savarirayan type ORPHA:85170
- Robinow syndrome ORPHA:97360
- SHOX-related short stature ORPHA:314795
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome ORPHA:397623
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome ORPHA:424099
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome ORPHA:440354
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type ORPHA:163966
- EN1-related dorsoventral syndrome ORPHA:611223
- QRICH1-related intellectual disability-chondrodysplasia syndrome ORPHA:580940
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome ORPHA:632603
- Campomelic dysplasia and related disorders ORPHA:93439
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Campomelic dysplasia ORPHA:140
- Campomelia, Cumming type ORPHA:1318
- Kyphomelic dysplasia ORPHA:1801
- Blount disease ORPHA:2768
- Weismann-Netter syndrome ORPHA:3344
- Stüve-Wiedemann syndrome ORPHA:3206
- FGFR2-related bent bone dysplasia ORPHA:313855
- Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome ORPHA:324307
- Slender bone dysplasia ORPHA:93440
- Kenny-Caffey syndrome ORPHA:2333
- Autosomal recessive Kenny-Caffey syndrome ORPHA:93324
- Autosomal dominant Kenny-Caffey syndrome ORPHA:93325
- 3M syndrome ORPHA:2616
- Osteocraniostenosis ORPHA:2763
- IMAGe syndrome ORPHA:85173
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome ORPHA:314394
- Thin ribs-tubular bones-dysmorphism syndrome ORPHA:1506
- Hallermann-Streiff syndrome ORPHA:2108
- Seckel syndrome ORPHA:808
- Ear-patella-short stature syndrome ORPHA:2554
- Microcephalic osteodysplastic primordial dwarfism type II ORPHA:2637
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Microcephalic primordial dwarfism, Toriello type ORPHA:2643
- Microcephalic osteodysplastic primordial dwarfism types I and III ORPHA:2636
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type ORPHA:85172
- Hallermann-Streiff-like syndrome ORPHA:2109
- DONSON-related microcephaly-short stature-limb abnormalities spectrum ORPHA:572761
- Primary bone dysplasia with multiple joint dislocations ORPHA:93441
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ORPHA:93360
- Larsen-like osseous dysplasia-short stature syndrome ORPHA:2370
- Atelosteogenesis type I ORPHA:1190
- Auriculoosteodysplasia ORPHA:114
- Boomerang dysplasia ORPHA:1263
- Desbuquois syndrome ORPHA:1425
- Coxoauricular syndrome ORPHA:1508
- Lethal Larsen-like syndrome ORPHA:2371
- Larsen syndrome ORPHA:503
- Atelosteogenesis type III ORPHA:56305
- Pseudodiastrophic dysplasia ORPHA:85174
- CHST3-related skeletal dysplasia ORPHA:263463
- Chondrodysplasia with joint dislocations, gPAPP type ORPHA:280586
- Larsen-like syndrome, B3GAT3 type ORPHA:284139
- Steel syndrome ORPHA:438117
- Severe myopia-generalized joint laxity-short stature syndrome ORPHA:527450
- Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome ORPHA:589442
- Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type ORPHA:642099
- EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity ORPHA:642085
- Chondrodysplasia punctata ORPHA:93442
- Greenberg dysplasia ORPHA:1426
- CHILD syndrome ORPHA:139
- Rhizomelic chondrodysplasia punctata ORPHA:177
- Rhizomelic chondrodysplasia punctata type 3 ORPHA:309803
- Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789
- Rhizomelic chondrodysplasia punctata type 2 ORPHA:309796
- Rhizomelic chondrodysplasia punctata type 5 ORPHA:468717
- Non-rhizomelic chondrodysplasia punctata ORPHA:176
- X-linked dominant chondrodysplasia punctata ORPHA:35173
- Brachytelephalangic chondrodysplasia punctata ORPHA:79345
- Chondrodysplasia punctata, tibial-metacarpal type ORPHA:79346
- Chondrodysplasia punctata, Toriello type ORPHA:79347
- Astley-Kendall dysplasia ORPHA:85175
- Keutel syndrome ORPHA:85202
- Primary bone dysplasia with increased bone density ORPHA:93444
- Juvenile Paget disease ORPHA:2801
- Camurati-Engelmann disease ORPHA:1328
- Craniodiaphyseal dysplasia ORPHA:1513
- Craniometaphyseal dysplasia ORPHA:1522
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome ORPHA:1798
- Ghosal hematodiaphyseal dysplasia ORPHA:1802
- Lenz-Majewski hyperostotic dwarfism ORPHA:2658
- Oculodentodigital dysplasia ORPHA:2710
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome ORPHA:2779
- Endosteal hyperostosis, Worth type ORPHA:2790
- Pyle disease ORPHA:3005
- Sclerosteosis ORPHA:3152
- Tricho-dento-osseous syndrome ORPHA:3352
- Hyperostosis corticalis generalisata ORPHA:3416
- Dysplastic cortical hyperostosis ORPHA:646139
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type ORPHA:2204
- Dysplastic cortical hyperostosis, Al-Gazali type ORPHA:646136
- Osteopetrosis and related disorders ORPHA:2781
- 12q14 microdeletion syndrome ORPHA:94063
- Isolated osteopoikilosis ORPHA:166119
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Intermediate osteopetrosis ORPHA:210110
- Albers-Schönberg osteopetrosis ORPHA:53
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Pycnodysostosis ORPHA:763
- Dysosteosclerosis ORPHA:1782
- Melorheostosis with osteopoikilosis ORPHA:1879
- Melorheostosis ORPHA:2485
- Osteomesopyknosis ORPHA:2777
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Autosomal recessive malignant osteopetrosis ORPHA:667
- Autosomal dominant osteopetrosis type 1 ORPHA:2783
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179
- Leukocyte adhesion deficiency type III ORPHA:99844
- Osteosclerotic metaphyseal dysplasia ORPHA:500548
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Diaphyseal medullary stenosis-bone malignancy syndrome ORPHA:85182
- Craniometadiaphyseal dysplasia, wormian bone type ORPHA:85184
- Endosteal sclerosis-cerebellar hypoplasia syndrome ORPHA:85186
- Metaphyseal dysplasia, Braun-Tinschert type ORPHA:85188
- Neonatal osteosclerotic dysplasia ORPHA:93443
- Caffey disease ORPHA:1310
- Osteosclerotic bone dysplasia ORPHA:1832
- Desmosterolosis ORPHA:35107
- Blomstrand lethal chondrodysplasia ORPHA:50945
- Primary hypertrophic osteoarthropathy ORPHA:248095
- High bone mass osteogenesis imperfecta ORPHA:314029
- Mixed sclerosing bone dystrophy with extra-skeletal manifestations ORPHA:324364
- X-linked calvarial hyperostosis ORPHA:391327
- Hyperostosis cranialis interna ORPHA:443098
- Primary bone dysplasia with decreased bone density ORPHA:93446
- Bruck syndrome ORPHA:2771
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome ORPHA:2772
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ORPHA:2773
- Osteogenesis imperfecta ORPHA:666
- Osteogenesis imperfecta type 1 ORPHA:216796
- Osteogenesis imperfecta type 2 ORPHA:216804
- Osteogenesis imperfecta type 3 ORPHA:216812
- Osteogenesis imperfecta type 4 ORPHA:216820
- Osteogenesis imperfecta type 5 ORPHA:216828
- Cole-Carpenter syndrome ORPHA:2050
- Geroderma osteodysplastica ORPHA:2078
- Grant syndrome ORPHA:2097
- Osteopenia-intellectual disability-sparse hair syndrome ORPHA:2324
- Osteoporosis-oculocutaneous hypopigmentation syndrome ORPHA:2786
- Osteoporosis-pseudoglioma syndrome ORPHA:2788
- Complex lethal osteochondrodysplasia ORPHA:457378
- Gnathodiaphyseal dysplasia ORPHA:53697
- Singleton-Merten dysplasia ORPHA:85191
- Calvarial doughnut lesions-bone fragility syndrome ORPHA:85192
- Idiopathic juvenile osteoporosis ORPHA:85193
- Spondylo-ocular syndrome ORPHA:85194
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia ORPHA:166277
- Ehlers-Danlos/osteogenesis imperfecta syndrome ORPHA:230857
- TMEM165-CDG ORPHA:314667
- Chondroectodermal dysplasia with night blindness ORPHA:319195
- X-linked osteoporosis with fractures ORPHA:391330
- LRP5-related primary osteoporosis ORPHA:498481
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:536467
- Classical-like Ehlers-Danlos syndrome type 2 ORPHA:536532
- Primary bone dysplasia with defective bone mineralization ORPHA:93447
- Familial calcium pyrophosphate deposition ORPHA:1416
- Oculoskeletodental syndrome ORPHA:557003
- Hypophosphatasia ORPHA:436
- Perinatal lethal hypophosphatasia ORPHA:247623
- Prenatal benign hypophosphatasia ORPHA:247638
- Infantile hypophosphatasia ORPHA:247651
- Childhood-onset hypophosphatasia ORPHA:247667
- Adult hypophosphatasia ORPHA:247676
- Odontohypophosphatasia ORPHA:247685
- Neonatal severe primary hyperparathyroidism ORPHA:417
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Lipodystrophy-intellectual disability-deafness syndrome ORPHA:50811
- Ossification anomalies-psychomotor developmental delay syndrome ORPHA:73230
- Eiken syndrome ORPHA:79106
- Disorders of vitamin D metabolism ORPHA:289098
- Hypophosphatemic rickets ORPHA:437
- Cystinosis ORPHA:213
- Infantile nephropathic cystinosis ORPHA:411629
- Juvenile nephropathic cystinosis ORPHA:411634
- Ocular cystinosis ORPHA:411641
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- Dent disease ORPHA:1652
- X-linked hypophosphatemia ORPHA:89936
- Autosomal dominant hypophosphatemic rickets ORPHA:89937
- Hereditary hypophosphatemic rickets with hypercalciuria ORPHA:157215
- Autosomal recessive hypophosphatemic rickets ORPHA:289176
- Hypocalcemic rickets ORPHA:289103
- Primary osteolysis ORPHA:93449
- Mandibuloacral dysplasia associated to MTX2 ORPHA:647667
- Hyaline fibromatosis syndrome ORPHA:498474
- Hajdu-Cheney syndrome ORPHA:955
- Epiphyseal stippling-osteoclastic hyperplasia syndrome ORPHA:1952
- Mandibuloacral dysplasia ORPHA:2457
- Mandibuloacral dysplasia with type A lipodystrophy ORPHA:90153
- Mandibuloacral dysplasia with type B lipodystrophy ORPHA:90154
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Autosomal recessive distal osteolysis syndrome ORPHA:2776
- Hutchinson-Gilford progeria syndrome ORPHA:740
- Talo-patello-scaphoid osteolysis ORPHA:50809
- Familial expansile osteolysis ORPHA:85195
- Nestor-Guillermo progeria syndrome ORPHA:280576
- Phalangeal microgeodic syndrome ORPHA:352636
- Multicentric osteolysis-nodulosis-arthropathy spectrum ORPHA:371428
- Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
- Gorham-Stout disease ORPHA:73
- Neurofibromatosis type 1 ORPHA:636
- 17q11 microdeletion syndrome ORPHA:97685
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- Fibrodysplasia ossificans progressiva ORPHA:337
- Fibrous dysplasia/McCune-Albright syndrome ORPHA:595216
- Cherubism ORPHA:184
- Dysplasia epiphysealis hemimelica ORPHA:1822
- Exostoses-anetodermia-brachydactyly type E syndrome ORPHA:1962
- Nasu-Hakola disease ORPHA:2770
- Progressive osseous heteroplasia ORPHA:2762
- Ollier disease ORPHA:296
- Metachondromatosis ORPHA:2499
- Osteoglosphonic dysplasia ORPHA:2645
- Carpotarsal osteochondromatosis ORPHA:2767
- Short stature, Brussels type ORPHA:2867
- Ramon syndrome ORPHA:3019
- Upington disease ORPHA:3408
- Multiple osteochondromas ORPHA:321
- Gnathodiaphyseal dysplasia ORPHA:53697
- Mazabraud syndrome ORPHA:57782
- Genochondromatosis type 1 ORPHA:85197
- Dysspondyloenchondromatosis ORPHA:85198
- Genochondromatosis type 2 ORPHA:93398
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria ORPHA:99646
- Maffucci syndrome ORPHA:163634
- Osteofibrous dysplasia ORPHA:488265
- Cleidocranial dysplasia and isolated cranial ossification defect ORPHA:93451
- Parietal foramina with clavicular hypoplasia ORPHA:251290
- Cleidocranial dysplasia ORPHA:1452
- Delayed membranous cranial ossification ORPHA:3034
- Yunis-Varon syndrome ORPHA:3472
- Enlarged parietal foramina ORPHA:60015
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Lethal chondrodysplasia ORPHA:93465
- Bone dysplasia, lethal Holmgren type ORPHA:1842
- Lethal Kniest-like dysplasia ORPHA:2347
- Pyknoachondrogenesis ORPHA:3003
- Lethal recessive chondrodysplasia ORPHA:1423
- Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments ORPHA:364531
- Dysostosis ORPHA:364559
- Craniosynostosis ORPHA:1531
- Non-syndromic craniosynostosis ORPHA:139390
- Non-syndromic unisutural craniosynostosis ORPHA:620096
- Non-syndromic unicoronal craniosynostosis ORPHA:620102
- Non-syndromic unilambdoid craniosynostosis ORPHA:620113
- Non-syndromic unifrontosphenoidal craniosynostosis ORPHA:620139
- Non-syndromic unisquamosal craniosynostosis ORPHA:620146
- Non-syndromic metopic craniosynostosis ORPHA:3366
- Non-syndromic sagittal craniosynostosis ORPHA:35093
- Non-syndromic multisutural craniosynostosis ORPHA:620152
- Non-syndromic non-specific multisutural craniosynostosis ORPHA:620158
- Non-syndromic bilambdoid craniosynostosis ORPHA:620178
- Non-syndromic unicoronal and sagittal craniosynostosis ORPHA:620186
- Non-syndromic metopic and sagittal craniosynostosis ORPHA:620192
- Non-syndromic bicoronal and metopic craniosynostosis ORPHA:620198
- Non-syndromic bicoronal and sagittal craniosynostosis ORPHA:620205
- Non-syndromic pansynostosis ORPHA:620212
- Non-syndromic bicoronal craniosynostosis ORPHA:35099
- Non-syndromic bilambdoid and sagittal craniosynostosis ORPHA:1516
- Syndromic craniosynostosis ORPHA:139393
- Crouzon syndrome ORPHA:207
- C syndrome ORPHA:1308
- Apert syndrome ORPHA:87
- Antley-Bixler syndrome ORPHA:83
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis ORPHA:596008
- Baller-Gerold syndrome ORPHA:1225
- Cranioectodermal dysplasia ORPHA:1515
- Craniosynostosis, Philadelphia type ORPHA:1527
- Craniotelencephalic dysplasia ORPHA:1528
- Jackson-Weiss syndrome ORPHA:1540
- Curry-Jones syndrome ORPHA:1553
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome ORPHA:1555
- Craniosynostosis, Herrmann-Opitz type ORPHA:2145
- Holoprosencephaly-craniosynostosis syndrome ORPHA:2163
- Lowry-MacLean syndrome ORPHA:2409
- Shprintzen-Goldberg syndrome ORPHA:2462
- Cardiocranial syndrome, Pfeiffer type ORPHA:2872
- SCARF syndrome ORPHA:3134
- Trigonocephaly-broad thumbs syndrome ORPHA:3365
- Trigonocephaly-short stature-developmental delay syndrome ORPHA:3369
- X-linked intellectual disability-plagiocephaly syndrome ORPHA:2898
- Craniosynostosis, Boston type ORPHA:1541
- Craniomicromelic syndrome ORPHA:1524
- Craniosynostosis-intracranial calcifications syndrome ORPHA:52054
- Muenke syndrome ORPHA:53271
- Infantile hypophosphatasia ORPHA:247651
- Craniosynostosis-anal anomalies-porokeratosis syndrome ORPHA:85199
- Crouzon syndrome-acanthosis nigricans syndrome ORPHA:93262
- Cloverleaf skull-multiple congenital anomalies syndrome ORPHA:93267
- Prenatal benign hypophosphatasia ORPHA:247638
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome ORPHA:100978
- Familial scaphocephaly syndrome ORPHA:169163
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ORPHA:1538
- Familial scaphocephaly syndrome, McGillivray type ORPHA:168624
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome ORPHA:171839
- Osteosclerosis-developmental delay-craniosynostosis syndrome ORPHA:178377
- Acrocephalopolydactyly ORPHA:221054
- Craniosynostosis-dental anomalies ORPHA:284149
- Lethal occipital encephalocele-skeletal dysplasia syndrome ORPHA:293925
- Childhood-onset hypophosphatasia ORPHA:247667
- Noonan syndrome ORPHA:648
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type A ORPHA:79269
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type D ORPHA:79272
- Mucopolysaccharidosis type 10 ORPHA:662216
- Mucopolysaccharidosis type 4 ORPHA:582
- Mucopolysaccharidosis type 6 ORPHA:583
- Mucopolysaccharidosis type 6, rapidly progressing ORPHA:276212
- Mucopolysaccharidosis type 6, slowly progressing ORPHA:276223
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 1 ORPHA:579
- Hyaluronidase deficiency ORPHA:67041
- Osteoglosphonic dysplasia ORPHA:2645
- Williams syndrome ORPHA:904
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome ORPHA:369837
- FGFR2-related bent bone dysplasia ORPHA:313855
- Craniofrontonasal dysplasia ORPHA:1520
- 3MC syndrome ORPHA:293843
- Thanatophoric dysplasia ORPHA:2655
- Pycnodysostosis ORPHA:763
- Coffin-Siris syndrome ORPHA:1465
- Acrocallosal syndrome ORPHA:36
- Dubowitz syndrome ORPHA:235
- Bohring-Opitz syndrome ORPHA:97297
- Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome ORPHA:647681
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome ORPHA:565858
- Craniosynostosis-facial dysmorphism-brachydactyly syndrome ORPHA:672979
- Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome ORPHA:672985
- KBG syndrome ORPHA:2332
- Koolen-De Vries syndrome ORPHA:96169
- 17q21.31 microdeletion syndrome ORPHA:363958
- Koolen-De Vries syndrome due to a point mutation ORPHA:363965
- Fetal valproate spectrum disorder ORPHA:1906
- Pfeiffer syndrome ORPHA:710
- Pfeiffer syndrome type 1 ORPHA:93258
- Pfeiffer syndrome type 2 ORPHA:93259
- Pfeiffer syndrome type 3 ORPHA:93260
- Saethre-Chotzen syndrome ORPHA:794
- Carpenter syndrome ORPHA:65759
- Congenital pseudoarthrosis of the clavicle ORPHA:66630
- Dysostosis with predominant craniofacial involvement ORPHA:93453
- Cantú syndrome ORPHA:1517
- Oculomaxillofacial dysostosis ORPHA:1794
- Frontonasal dysplasia ORPHA:250
- SPECC1L-related hypertelorism syndrome ORPHA:1519
- Craniofrontonasal dysplasia ORPHA:1520
- Craniofrontonasal dysplasia-Poland anomaly syndrome ORPHA:1521
- Pai syndrome ORPHA:1993
- Frontofacionasal dysplasia ORPHA:1791
- Acromelic frontonasal dysplasia ORPHA:1827
- Frontonasal dysplasia-alopecia-genital anomalies syndrome ORPHA:228390
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- Frontorhiny ORPHA:391474
- Oculoauriculofrontonasal syndrome ORPHA:398156
- SIX2-related frontonasal dysplasia ORPHA:488437
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome ORPHA:521308
- Craniorhiny ORPHA:157832
- Oculoauriculovertebral spectrum with radial defects ORPHA:2549
- Familial osteodysplasia, Anderson type ORPHA:2769
- Craniofaciofrontodigital syndrome ORPHA:363705
- Teebi-Shaltout syndrome ORPHA:3291
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome ORPHA:459061
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome ORPHA:314555
- Dobrow syndrome ORPHA:3262
- Dysostosis with predominant vertebral and costal involvement ORPHA:93454
- Autosomal recessive spondylocostal dysostosis ORPHA:2311
- Currarino syndrome ORPHA:1552
- Cerebrocostomandibular syndrome ORPHA:1393
- Cerebrofaciothoracic dysplasia ORPHA:1394
- Ankylosing vertebral hyperostosis with tylosis ORPHA:2206
- Melhem-Fahl syndrome ORPHA:2482
- Imperforate oropharynx-costovertebral anomalies syndrome ORPHA:2759
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome ORPHA:2840
- Autosomal dominant spondylocostal dysostosis ORPHA:1797
- Wildervanck syndrome ORPHA:3456
- Progressive non-infectious anterior vertebral fusion ORPHA:2062
- Isolated Klippel-Feil syndrome ORPHA:2345
- Diaphanospondylodysostosis ORPHA:66637
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome ORPHA:85164
- Horizontal gaze palsy with progressive scoliosis ORPHA:2744
- Tall stature-long halluces-multiple extra-epiphyses syndrome ORPHA:329191
- Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ORPHA:447974
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders ORPHA:505248
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome ORPHA:453499
- Patellar dysostosis ORPHA:93455
- Nail-patella syndrome ORPHA:2614
- Coxopodopatellar syndrome ORPHA:1509
- Ear-patella-short stature syndrome ORPHA:2554
- Isolated patella aplasia/hypoplasia ORPHA:86789
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Dysostosis with limb anomaly as a major feature ORPHA:364568
- Camptodactyly syndrome, Guadalajara type 3 ORPHA:488434
- Tel Hashomer camptodactyly syndrome ORPHA:3292
- Ectrodactyly with and without other manifestations ORPHA:498477
- EEC syndrome ORPHA:1896
- EEM syndrome ORPHA:1897
- Limb-mammary syndrome ORPHA:69085
- ADULT syndrome ORPHA:978
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Charlie M syndrome ORPHA:1406
- Gollop-Wolfgang complex ORPHA:1986
- Hartsfield syndrome ORPHA:2117
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Isolated split hand-split foot malformation ORPHA:2440
- Dysostosis with brachydactyly ORPHA:69028
- Dysostosis with brachydactyly without extraskeletal manifestations ORPHA:498451
- Symbrachydactyly of hands and feet ORPHA:1570
- Preaxial digit brachydactyly-webbed fingers ORPHA:633211
- Brachydactyly type A1 ORPHA:93388
- Brachydactyly type A2 ORPHA:93396
- Brachydactyly type A4 ORPHA:93394
- Brachydactyly type A7 ORPHA:93397
- Sugarman brachydactyly ORPHA:498602
- Cooks syndrome ORPHA:1487
- Mononen-Karnes-Senac syndrome ORPHA:2565
- Familial digital arthropathy-brachydactyly ORPHA:85169
- Brachydactyly type A6 ORPHA:93382
- Brachydactyly type B ORPHA:93383
- Brachydactyly type C ORPHA:93384
- Brachydactyly type E ORPHA:93387
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Camptobrachydactyly ORPHA:1319
- Dysostosis with brachydactyly with extraskeletal manifestations ORPHA:498454
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies ORPHA:589608
- Brachydactyly-short stature-retinitis pigmentosa syndrome ORPHA:166035
- Mammary-digital-nail syndrome ORPHA:238744
- 2q37 microdeletion syndrome ORPHA:1001
- Hyperphosphatasia-intellectual disability syndrome ORPHA:247262
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Feingold syndrome ORPHA:1305
- Hand-foot-genital syndrome ORPHA:2438
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- Temtamy preaxial brachydactyly syndrome ORPHA:363417
- Brachydactyly-preaxial hallux varus syndrome ORPHA:1278
- Coffin-Siris syndrome ORPHA:1465
- Adams-Oliver syndrome ORPHA:974
- Thumb stiffness-brachydactyly-intellectual disability syndrome ORPHA:1078
- Brachymorphism-onychodysplasia-dysphalangism syndrome ORPHA:1292
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Poland syndrome ORPHA:2911
- Skeletal dysplasia-epilepsy-short stature syndrome ORPHA:1858
- Brachydactyly-long thumb syndrome ORPHA:2946
- Acrodysplasia scoliosis ORPHA:2956
- Microcephaly-brachydactyly-kyphoscoliosis syndrome ORPHA:3433
- Ulnar/fibula ray defect-brachydactyly syndrome ORPHA:52056
- Non-syndromic limb reduction defect ORPHA:93457
- Non-syndromic longitudinal limb defect ORPHA:498457
- Non-syndromic hemimelia ORPHA:2130
- Isolated ulnar hemimelia ORPHA:93320
- Isolated radial hemimelia ORPHA:93321
- Isolated tibial hemimelia ORPHA:93322
- Isolated fibular hemimelia ORPHA:93323
- Isolated hypoplasia of thumb ORPHA:294988
- Non-syndromic terminal transverse limb defect ORPHA:498461
- Isolated acheiropodia ORPHA:931
- Isolated absence/hypoplasia of fingers excluding thumb, unilateral ORPHA:973
- Non-syndromic amelia ORPHA:294925
- Isolated amelia of upper limb ORPHA:294967
- Isolated amelia of lower limb ORPHA:294969
- Isolated tetra-amelia ORPHA:294971
- Non-syndromic complete hemimelia ORPHA:498491
- Isolated absence of both forearm and hand ORPHA:294979
- Isolated absence of both lower leg and foot ORPHA:294981
- Isolated acheiria ORPHA:294983
- Isolated apodia ORPHA:294986
- Non-syndromic intercalary limb defects ORPHA:294927
- Isolated absence of upper arm and forearm with hand present ORPHA:294975
- Isolated absence of thigh and lower leg with foot present ORPHA:294977
- Isolated femoral agenesis/hypoplasia ORPHA:1987
- Isolated humeral agenesis/hypoplasia ORPHA:294973
- Isolated proximal femoral focal deficiency ORPHA:633228
- Isolated congenital femoral bifurcation ORPHA:667589
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy ORPHA:93458
- Non-syndromic polydactyly ORPHA:2913
- Non-syndromic preaxial polydactyly ORPHA:498464
- Polydactyly of a triphalangeal thumb ORPHA:93336
- Polydactyly of an index finger ORPHA:93337
- Polysyndactyly ORPHA:93338
- Polydactyly of a biphalangeal thumb and/or hallux ORPHA:93339
- Non-syndromic postaxial polydactyly ORPHA:498467
- Non-syndromic complex polydactyly ORPHA:498470
- Non-syndromic syndactyly ORPHA:90025
- Syndactyly type 8 ORPHA:2498
- Syndactyly type 1 ORPHA:93402
- Zygodactyly type 1 ORPHA:295187
- Zygodactyly type 2 ORPHA:295189
- Zygodactyly type 3 ORPHA:295191
- Zygodactyly type 4 ORPHA:295193
- Syndactyly type 2 ORPHA:93403
- Synpolydactyly type 1 ORPHA:295195
- Synpolydactyly type 2 ORPHA:295197
- Synpolydactyly type 3 ORPHA:295199
- Syndactyly type 3 ORPHA:93404
- Syndactyly type 4 ORPHA:93405
- Syndactyly type 5 ORPHA:93406
- Mesoaxial synostotic syndactyly with phalangeal reduction ORPHA:157801
- Syndactyly type 6 ORPHA:295012
- Isolated hyperphalangy ORPHA:295002
- Syndrome with synostosis or other joint formation defect ORPHA:93459
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome ORPHA:75496
- Brachydactyly-elbow wrist dysplasia syndrome ORPHA:1275
- Banki syndrome ORPHA:1228
- Tarsal-carpal coalition syndrome ORPHA:1412
- OSLAM syndrome ORPHA:2760
- Leri pleonosteosis ORPHA:2900
- Multiple synostoses syndrome ORPHA:3237
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Proximal symphalangism ORPHA:3250
- Radioulnar synostosis-microcephaly-scoliosis syndrome ORPHA:3268
- Radioulnar synostosis-developmental delay-hypotonia syndrome ORPHA:3270
- Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ORPHA:71289
- WT limb-blood syndrome ORPHA:3466
- Isolated pseudoarthrosis of the limbs ORPHA:157808
- Congenital pseudoarthrosis of the tibia ORPHA:295018
- Congenital pseudoarthrosis of the femur ORPHA:295020
- Congenital pseudoarthrosis of the fibula ORPHA:295022
- Congenital pseudoarthrosis of the radius ORPHA:295024
- Congenital pseudoarthrosis of the ulna ORPHA:295026
- Familial clubfoot with or without associated lower limb anomalies ORPHA:199315
- Familial clubfoot due to 17q23.1q23.2 microduplication ORPHA:238578
- Familial clubfoot due to 5q31 microdeletion ORPHA:293144
- Familial clubfoot due to PITX1 point mutation ORPHA:293150
- Heart-hand syndrome ORPHA:228184
- Holt-Oram syndrome ORPHA:392
- Heart-hand syndrome type 3 ORPHA:1342
- Heart-hand syndrome type 2 ORPHA:1350
- Brachydactyly-long thumb syndrome ORPHA:2946
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ORPHA:228190
- Carney complex-trismus-pseudocamptodactyly syndrome ORPHA:319340
- Non-syndromic joint formation defects ORPHA:294949
- Isolated distal symphalangism ORPHA:3248
- Isolated humero-radial synostosis ORPHA:3265
- Isolated humero-radio-ulnar synostosis ORPHA:3266
- Isolated radio-ulnar synostosis ORPHA:3269
- Isolated humero-ulnar synostosis ORPHA:94056
- Isolated tibio-fibular synostosis ORPHA:295028
- Syndrome with limb reduction defects ORPHA:294955
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Thrombocytopenia-absent radius syndrome ORPHA:3320
- Fanconi anemia ORPHA:84
- Roberts syndrome ORPHA:3103
- Adams-Oliver syndrome ORPHA:974
- ADULT syndrome ORPHA:978
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome ORPHA:988
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ORPHA:1112
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Lethal faciocardiomelic dysplasia ORPHA:1972
- Gollop-Wolfgang complex ORPHA:1986
- Femoral-facial syndrome ORPHA:1988
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Ulna hypoplasia-intellectual disability syndrome ORPHA:2249
- IVIC syndrome ORPHA:2307
- Absence deformity of leg-cataract syndrome ORPHA:2310
- Karsch-Neugebauer syndrome ORPHA:2329
- Tetramelic monodactyly ORPHA:2564
- Fibular aplasia-complex brachydactyly syndrome ORPHA:2639
- Postaxial tetramelic oligodactyly ORPHA:2730
- Pelvis-shoulder dysplasia ORPHA:2839
- Fuhrmann syndrome ORPHA:2854
- Phocomelia, Schinzel type ORPHA:2879
- Radio-renal syndrome ORPHA:3015
- Absent radius-anogenital anomalies syndrome ORPHA:3016
- RAPADILINO syndrome ORPHA:3021
- Ulnar-mammary syndrome ORPHA:3138
- Tetraamelia-multiple malformations syndrome ORPHA:3301
- Thalidomide embryopathy ORPHA:3312
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Humerus trochlea aplasia ORPHA:3383
- Split hand-split foot-deafness syndrome ORPHA:71271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Pelviscapular dysplasia ORPHA:93333
- Mammary-digital-nail syndrome ORPHA:238744
- Thrombocythemia with distal limb defects ORPHA:329319
- Holt-Oram syndrome ORPHA:392
- Cornelia de Lange syndrome ORPHA:199
- Intellectual disability-spasticity-ectrodactyly syndrome ORPHA:1891
- FATCO syndrome ORPHA:2492
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Camptodactyly syndrome, Guadalajara type 2 ORPHA:1326
- Heart defects-limb shortening syndrome ORPHA:1354
- Dysostosis with combined reduction defects of upper and lower limbs ORPHA:294957
- Fibular aplasia-ectrodactyly syndrome ORPHA:1118
- Radial deficiency-tibial hypoplasia syndrome ORPHA:1121
- Ulnar hypoplasia-split foot syndrome ORPHA:1122
- Gollop-Wolfgang complex ORPHA:1986
- Femur-fibula-ulna complex ORPHA:2019
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy ORPHA:294959
- Greig cephalopolysyndactyly-contiguous gene syndrome ORPHA:658805
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Acropectoral syndrome ORPHA:85203
- Brachydactyly-syndactyly, Zhao type ORPHA:93409
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome ORPHA:357332
- Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ORPHA:369979
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ORPHA:420584
- Townes-Brocks syndrome ORPHA:857
- Meckel syndrome ORPHA:564
- Acrocallosal syndrome ORPHA:36
- Acropectorovertebral dysplasia ORPHA:957
- Scalp defects-postaxial polydactyly syndrome ORPHA:1003
- Aphalangy-syndactyly-microcephaly syndrome ORPHA:1113
- Catel-Manzke syndrome ORPHA:1388
- Craniosynostosis, Philadelphia type ORPHA:1527
- Dandy-Walker malformation-postaxial polydactyly syndrome ORPHA:1566
- Fibular dimelia-diplopodia syndrome ORPHA:1757
- Ectrodactyly-polydactyly syndrome ORPHA:1892
- Gollop-Wolfgang complex ORPHA:1986
- Greig cephalopolysyndactyly syndrome ORPHA:380
- Hallux varus-preaxial polysyndactyly syndrome ORPHA:2110
- Pallister-Hall syndrome ORPHA:672
- Lacrimoauriculodentodigital syndrome ORPHA:2363
- Laurin-Sandrow syndrome ORPHA:2378
- Fuhrmann syndrome ORPHA:2854
- Polydactyly-myopia syndrome ORPHA:2917
- Oliver syndrome ORPHA:2920
- Crossed polysyndactyly ORPHA:2935
- Triphalangeal thumbs-brachyectrodactyly syndrome ORPHA:2947
- Guttmacher syndrome ORPHA:2957
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome ORPHA:3004
- Sillence syndrome ORPHA:3168
- Eyebrow duplication-syndactyly syndrome ORPHA:3172
- Symphalangism with multiple anomalies of hands and feet ORPHA:3246
- Filippi syndrome ORPHA:3255
- Cenani-Lenz syndrome ORPHA:3258
- Absent tibia-polydactyly-arachnoid cyst syndrome ORPHA:3328
- Syndactyly-polydactyly-ear lobe syndrome ORPHA:3259
- Smith-Lemli-Opitz syndrome ORPHA:818
- Split hand-split foot-deafness syndrome ORPHA:71271
- FATCO syndrome ORPHA:2492
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome ORPHA:476119
- Split-foot malformation-mesoaxial polydactyly syndrome ORPHA:488232
- Bipartite talus ORPHA:364198
- Dysostosis with limb and face anomalies as a major feature ORPHA:364571
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Endocrine-cerebro-osteodysplasia syndrome ORPHA:199332
- Acrofacial dysostosis ORPHA:364574
- Nager syndrome ORPHA:245
- Postaxial acrofacial dysostosis ORPHA:246
- Acrocraniofacial dysostosis ORPHA:949
- Acrofacial dysostosis, Weyers type ORPHA:952
- X-linked mandibulofacial dysostosis ORPHA:1131
- Craniofrontonasal dysplasia ORPHA:1520
- Acrofrontofacionasal dysostosis ORPHA:1784
- Acrofacial dysostosis, Catania type ORPHA:1786
- Acrofacial dysostosis, Rodríguez type ORPHA:1788
- Patterson-Stevenson-Fontaine syndrome ORPHA:2439
- Acromelic frontonasal dysplasia ORPHA:1827
- Acrofacial dysostosis, Palagonia type ORPHA:1787
- Acrofacial dysostosis, Kennedy-Teebi type ORPHA:64542
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Richieri Costa-Pereira syndrome ORPHA:3102
- Otoonychoperoneal syndrome ORPHA:2793
- External auditory canal atresia-vertical talus-hypertelorism syndrome ORPHA:3023
- Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome ORPHA:1321
- Camptodactyly-joint contractures-facial skeletal defects syndrome ORPHA:1323
- Osteonecrosis ORPHA:399158
- Mueller-Weiss syndrome ORPHA:566943
- Osteochondrosis ORPHA:399319
- Legg-Calvé-Perthes disease ORPHA:2380
- Thiemann disease, familial form ORPHA:3314
- Medial condensing osteitis of the clavicle ORPHA:57196
- Kienbock disease ORPHA:97332
- Osgood-Schlatter disease ORPHA:97335
- Panner disease ORPHA:97336
- Sinding-Larsen-Johansson disease ORPHA:97337
- Osteochondrosis of the metatarsal bone ORPHA:564003
- Osteochondrosis of the tarsal bone ORPHA:563991
- Epiphysiolysis of the hip ORPHA:399329
- Idiopathic phalangeal acro-osteolysis ORPHA:444316
- Osteochondritis dissecans ORPHA:2764
- Familial osteochondritis dissecans ORPHA:251262
- Avascular necrosis ORPHA:399164
- Secondary avascular necrosis ORPHA:399169
- Traumatic avascular necrosis ORPHA:399175
- Secondary non-traumatic avascular necrosis ORPHA:399180
- Rare hereditary disease with avascular necrosis ORPHA:399185
- Sickle cell anemia ORPHA:232
- Gaucher disease type 1 ORPHA:77259
- Gaucher disease type 3 ORPHA:77261
- Rare hereditary thrombophilia ORPHA:217454
- Severe hereditary thrombophilia due to congenital protein S deficiency ORPHA:743
- Severe hereditary thrombophilia due to congenital protein C deficiency ORPHA:745
- Hereditary thrombophilia due to congenital antithrombin deficiency ORPHA:82
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency ORPHA:217467
- Osteonecrosis of the jaw ORPHA:399293
- Primary avascular necrosis ORPHA:399302
- Osteoradionecrosis of the mandible ORPHA:521127
- Primary bone and joint tuberculosis ORPHA:645822
- Idiopathic pregnancy-associated osteoporosis ORPHA:647823