Rare diseases that primarily involve the skeletal & bone system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 766 conditions · last built 2026-08-30.
No conditions match that name. Try fewer letters, or browse all conditions.
A91
- Acampomelic Campomelic Dysplasia
- Achondrogenesis
- Achondrogenesis Type II
- Achondrogenesis, Type IA
- Achondrogenesis, Type IB
- Achondroplasia
- Acinar Dysplasia
- Acinar Dysplasia Caused By Mutation In FGF10
- Acinar Dysplasia Caused By Mutation In FGFR2
- Acinar Dysplasia Caused By Mutation In TBX4
- Acrocapitofemoral Dysplasia
- Acrocephalopolydactyly
- Acrocraniofacial Dysostosis
- Acrodysostosis
- Acrodysostosis 1 With Or Without Hormone Resistance
- Acrodysostosis 2 With Or Without Hormone Resistance
- Acrofacial Dysostosis
- Acrofacial Dysostosis Cincinnati Type
- Acrofacial Dysostosis Rodriguez Type
- Acrofacial Dysostosis, Catania Type
- Acrofacial Dysostosis, Kennedy-Teebi Type
- Acrofacial Dysostosis, Palagonia Type
- Acrofrontofacionasal Dysostosis
- Acrofrontofacionasal Dysostosis 1
- Acrofrontofacionasal Dysostosis Type 2
- Acromelic Dysplasia
- Acromelic Frontonasal Dysostosis
- Acromesomelic Dysplasia
- Acromesomelic Dysplasia 1, Maroteaux Type
- Acromesomelic Dysplasia 2B
- Acromesomelic Dysplasia 2C, Hunter-Thompson Type
- Acromesomelic Dysplasia 3
- Acromesomelic Dysplasia 4
- Acromesomelic Dysplasia, Campailla Martinelli Type
- Acromicric Dysplasia
- Acropectorovertebral Dysplasia
- Acute Panmyelosis With Myelofibrosis
- Adult Mesenchymal Chondrosarcoma
- Adult Myxoid Chondrosarcoma
- Alagille Syndrome Due To 20p12 Microdeletion
- Alagille Syndrome Due To A JAG1 Point Mutation
- Alagille Syndrome Due To A NOTCH2 Point Mutation
- Ameloonychohypohidrotic Syndrome
- Amniotic Band Syndrome
- Anauxetic Dysplasia
- Anauxetic Dysplasia 1
- Anauxetic Dysplasia 2
- Anauxetic Dysplasia 3
- Angel-Shaped Phalango-Epiphyseal Dysplasia
- Angioosteohypotrophic Syndrome
- Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome
- Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
- Aplasia Cutis-Enamel Dysplasia Syndrome
- Arteriohepatic Dysplasia
- Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
- Arthrogryposis-Ectodermal Dysplasia-Other Anomalies Syndrome
- Astley-Kendall Dysplasia
- Ateleiotic Dwarfism
- Atelosteogenesis
- Atelosteogenesis Type I
- Atelosteogenesis Type II
- Atelosteogenesis Type III
- Atypical Dentin Dysplasia Due To SMOC2 Deficiency
- Auriculoosteodysplasia
- Autosomal Dominant Chondrodysplasia Punctata
- Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
- Autosomal Dominant Hypophosphatemic Rickets
- Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
- Autosomal Dominant Omodysplasia
- Autosomal Dominant Osteopetrosis
- Autosomal Dominant Osteopetrosis 1
- Autosomal Dominant Osteopetrosis 2
- Autosomal Dominant Spondylocostal Dysostosis
- Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly
- Autosomal Recessive Brachyolmia
- Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
- Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
- Autosomal Recessive Omodysplasia
- Autosomal Recessive Osteopetrosis
- Autosomal Recessive Osteopetrosis 1
- Autosomal Recessive Osteopetrosis 2
- Autosomal Recessive Osteopetrosis 4
- Autosomal Recessive Osteopetrosis 5
- Autosomal Recessive Osteopetrosis 6
- Autosomal Recessive Osteopetrosis 7
- Autosomal Recessive Osteopetrosis 8
- Autosomal Recessive Spondylocostal Dysostosis
- Autosomal Recessive Spondyloepimetaphyseal Dysplasia
- Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type
- Axial Mesodermal Dysplasia Spectrum
- Axial Spondylometaphyseal Dysplasia
B40
- Baby Rattle Pelvis Dysplasia
- Ballard Syndrome
- Bent Bone Dysplasia
- Bent Bone Dysplasia Syndrome 1
- Bent Bone Dysplasia Syndrome 2
- Binder Syndrome
- Bird Headed-Dwarfism, Montreal Type
- Bone Chondrosarcoma
- Bone Dysplasia, Lethal Holmgren Type
- Boomerang Dysplasia
- Brachydactylous Dwarfism, Mseleni Type
- Brachydactyly Type A1
- Brachydactyly Type A1A
- Brachydactyly Type A1B
- Brachydactyly Type A1C
- Brachydactyly Type A1D
- Brachydactyly Type A3
- Brachydactyly Type A4
- Brachydactyly Type A7
- Brachydactyly Type B
- Brachydactyly Type B1
- Brachydactyly Type B2
- Brachydactyly Type C
- Brachydactyly Type D
- Brachydactyly Type E
- Brachydactyly Type E1
- Brachydactyly Type E2
- Brachydactyly-Arterial Hypertension Syndrome
- Brachydactyly-Elbow Wrist Dysplasia Syndrome
- Brachydactyly-Long Thumb Syndrome
- Brachydactyly-Preaxial Hallux Varus Syndrome
- Brachydactyly-Syndactyly Syndrome
- Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
- Brachyolmia
- Brachyolmia - Maroteaux Type
- Brachyolmia Type 1, Hobaek Type
- Brachyolmia Type 1, Toledo Type
- Brachyolmia-Amelogenesis Imperfecta Syndrome
- Brachyrachia (short Spine Dysplasia)
- Bruck Syndrome
C93
- Calloso-Genital Dysplasia
- Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia
- Camptobrachydactyly
- Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
- Camptomelic Dysplasia
- Cardiospondylocarpofacial Syndrome
- Carpotarsal Osteochondromatosis
- Caudal Regression Sequence
- Cervicofacial Fibrochondroma
- Chondroblastic Osteosarcoma
- Chondroblastoma
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrodysplasia Blomstrand Type
- Chondrodysplasia Calcificans Metaphysealis
- Chondrodysplasia Punctata
- Chondrodysplasia Punctata 2 X-Linked Dominant
- Chondrodysplasia Punctata, Brachytelephalangic, Autosomal
- Chondrodysplasia Punctata, MT Type
- Chondrodysplasia Punctata, Toriello Type
- Chondrodysplasia With Joint Dislocations, GPAPP Type
- Chondrodysplasia-Pseudohermaphroditism Syndrome
- Chondroectodermal Dysplasia With Night Blindness
- Chondroid Chordoma
- Chondromalacia Of Patella
- Chondromyxoid Fibroma
- Chondrosarcoma
- Clear Cell Chondrosarcoma
- Cleft Lip/palate-Ectodermal Dysplasia Syndrome
- Cleidocranial Dysostosis
- Cleidocranial Dysplasia 2
- Cleidocranial Dysplasia, Recessive Form
- Clivus Chondroid Chordoma
- Cloverleaf Skull-Asphyxiating Thoracic Dysplasia Syndrome
- Cochleovestibular Dysplasia
- COL1A2-Related Osteogenesis Imperfecta
- COL2A1-Related Spondyloepiphyseal Dysplasia
- Cole-Carpenter Syndrome
- Coloboma Of Macula-Brachydactyly Type B Syndrome
- Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
- Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
- Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
- Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
- Complex Lethal Osteochondrodysplasia
- Congenital Diarrhea 5 With Tufting Enteropathy
- Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
- Congenital Vitreoretinal Dysplasia
- Cono-Spondylar Dysplasia
- Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
- Contractures-Ectodermal Dysplasia-Cleft Lip/palate Syndrome
- Coxopodopatellar Syndrome
- Craniodiaphyseal Dysplasia
- Craniodiaphyseal Dysplasia, Autosomal Dominant
- Cranioectodermal Dysplasia
- Cranioectodermal Dysplasia 1
- Cranioectodermal Dysplasia 2
- Cranioectodermal Dysplasia 3
- Cranioectodermal Dysplasia 4
- Cranioectodermal Dysplasia 5
- Cranioectodermal Dysplasia 6
- Craniofacial Conodysplasia
- Craniofacial Dysplasia - Osteopenia Syndrome
- Craniofacial Dyssynostosis
- Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
- Craniolenticulosutural Dysplasia
- Craniometadiaphyseal Dysplasia Wormian Bone Type
- Craniometaphyseal Dysplasia
- Craniometaphyseal Dysplasia, Autosomal Dominant
- Craniometaphyseal Dysplasia, Autosomal Recessive
- Craniosynostosis 2
- Craniosynostosis 4
- Craniosynostosis 6
- Craniosynostosis And Dental Anomalies
- Craniosynostosis Contractures Cleft
- Craniosynostosis Syndrome
- Craniosynostosis Syndrome, Autosomal Recessive
- Craniosynostosis With Ectopia Lentis
- Craniosynostosis With Ocular Abnormalities And Hallucal Defects
- Craniosynostosis, Adelaide Type
- Craniosynostosis, Herrmann-Opitz Type
- Craniosynostosis, Philadelphia Type
- Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
- Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
- Craniosynostosis-Facial Dysmorphism-Chiari-1 Malformation-Developmental And Language Delay Syndrome
- Craniosynostosis-Fibular Aplasia Syndrome
- Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
- Craniosynostosis-Intracranial Calcifications Syndrome
- Craniotelencephalic Dysplasia
- Craniotubular Dysplasia, Ikegawa Type
- Crouzon Syndrome
- Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
- Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome
- Curry-Hall Syndrome
D25
- Dappled Diaphyseal Dysplasia
- De La Chapelle Dysplasia
- Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
- Dedifferentiated Chondrosarcoma
- Dentin Dysplasia
- Dentin Dysplasia Type I
- Dentin Dysplasia Type II
- Dentin Dysplasia-Sclerotic Bones Syndrome
- Dentinogenesis Imperfecta
- Dermo-Odonto Dysplasia
- Desbuquois Dysplasia 1
- Desbuquois Dysplasia 2
- Desbuquois Syndrome
- Diaphanospondylodysostosis
- Diaphyseal Dysplasia
- Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome
- Diastrophic Dysplasia
- Diencephalic-Mesencephalic Junction Dysplasia
- Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
- Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
- Dysostosis Multiplex, Ain-Naz Type
- Dysplasia Epiphysealis Hemimelica
- Dysplasia Of Head Of Femur, Meyer Type
- Dysplasia Of The Proximal Femoral Epiphyses
- Dysspondyloenchondromatosis
E51
- Ectodermal Dysplasia
- Ectodermal Dysplasia 10A, Hypohidrotic/hair/nail Type, Autosomal Dominant
- Ectodermal Dysplasia 10B, Hypohidrotic/hair/tooth Type, Autosomal Recessive
- Ectodermal Dysplasia 11A, Hypohidrotic/hair/tooth Type, Autosomal Dominant
- Ectodermal Dysplasia 11B, Hypohidrotic/hair/tooth Type, Autosomal Recessive
- Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type
- Ectodermal Dysplasia 13, Hair/tooth Type
- Ectodermal Dysplasia 14, Hair/tooth Type With Or Without Hypohidrosis
- Ectodermal Dysplasia 15, Hypohidrotic/hair Type
- Ectodermal Dysplasia 17 With Or Without Limb Malformations
- Ectodermal Dysplasia 4, Hair/nail Type
- Ectodermal Dysplasia 5, Hair/nail Type
- Ectodermal Dysplasia 6, Hair/nail Type
- Ectodermal Dysplasia 7, Hair/nail Type
- Ectodermal Dysplasia 8, Hair/tooth/nail Type
- Ectodermal Dysplasia 9, Hair/nail Type
- Ectodermal Dysplasia Alopecia Preaxial Polydactyly
- Ectodermal Dysplasia And Immune Deficiency
- Ectodermal Dysplasia And Immunodeficiency 1
- Ectodermal Dysplasia And Immunodeficiency 2
- Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
- Ectodermal Dysplasia WNT10A Related
- Ectodermal Dysplasia, Trichoodontoonychial Type
- Ectodermal Dysplasia-Blindness Syndrome
- Ectodermal Dysplasia-Cutaneous Syndactyly Syndrome
- Ectodermal Dysplasia-Sensorineural Deafness Syndrome
- Ectodermal Dysplasia-Syndactyly Syndrome
- Ectodermal Dysplasia-Syndactyly Syndrome 1
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
- Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3
- Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
- EEM Syndrome
- Ehlers-Danlos Syndrome Progeroid Type
- Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type
- Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
- Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
- Ehlers-Danlos/osteogenesis Imperfecta Syndrome
- Eiken Type Chondrodysplasia
- Ellis-Van Creveld Syndrome
- Enchondromatosis
- Endocrine-Cerebro-Osteodysplasia Syndrome
- Epidermodysplasia Verruciformis
- Epidermodysplasia Verruciformis, X-Linked
- Epiphyseal Dysplasia, Multiple, 2
- Epiphyseal Dysplasia, Multiple, 3
- Epiphyseal Dysplasia, Multiple, 6
- Epiphyseal Dysplasia, Multiple, 7
- Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
- Even-Plus Syndrome
- Exostoses-Anetodermia-Brachydactyly Type E Syndrome
- Extraskeletal Myxoid Chondrosarcoma
F33
- Faciodigitogenital Syndrome
- FAM111A-Related Skeletal Dysplasia
- Familial Bent Bone Dysplasia Syndrome
- Familial Digital Arthropathy-Brachydactyly
- Familial Expansile Osteolysis
- Familial Osteoarthropathy Of The Fingers
- Familial Osteodysplasia, Anderson Type
- Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets
- Femur-Fibula-Ulna Complex
- FGFR3 Chondrodysplasia
- FGFR3-Related Chondrodysplasia
- Fibrochondrogenesis
- Fibrochondrogenesis 1
- Fibrochondrogenesis 2
- Fibromuscular Dysplasia
- Fibrous Dysplasia
- Fibrous Dysplasia Of Jaw
- Florid Cemento-Osseous Dysplasia
- Focal Facial Dermal Dysplasia
- Focal Facial Dermal Dysplasia Type I
- Focal Facial Dermal Dysplasia Type II
- Focal Facial Dermal Dysplasia Type III
- Focal Facial Dermal Dysplasia Type IV
- Fountain Syndrome
- Freeman-Sheldon Syndrome
- Frontometaphyseal Dysplasia
- Frontometaphyseal Dysplasia 1
- Frontometaphyseal Dysplasia 2
- Frontonasal Dysplasia
- Frontonasal Dysplasia - Severe Microphthalmia - Severe Facial Clefting Syndrome
- Frontonasal Dysplasia With Alopecia And Genital Anomaly
- Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
- Frontorhiny
G10
H25
- Hajdu-Cheney Syndrome
- Heart-Hand Syndrome
- Heart-Hand Syndrome Type 2
- Heart-Hand Syndrome Type 3
- Hereditary Hypophosphatemic Rickets
- Hereditary Mucoepithelial Dysplasia
- Hidrotic Ectodermal Dysplasia Syndrome
- Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
- High Bone Mass Osteogenesis Imperfecta
- Hip Dysplasia, Beukes Type
- Hirschsprung Disease-Type D Brachydactyly Syndrome
- Holt-Oram Syndrome
- Hunter-McAlpine Craniosynostosis
- Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
- Hypertrichotic Osteochondrodysplasia Cantu Type
- Hypocalcemic Rickets
- Hypochondrogenesis
- Hypochondroplasia
- Hypohidrotic Ectodermal Dysplasia
- Hypohidrotic X-Linked Ectodermal Dysplasia
- Hypomandibular Faciocranial Dysostosis
- Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Autosomal Recessive, 1
- Hypophosphatemic Rickets, Autosomal Recessive, 2
- Hypophosphatemic Rickets, X-Linked Recessive
I12
- Immuno-Osseous Dysplasia
- Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
- Infantile Osteopetrosis With Neuroaxonal Dysplasia
- Intracranial Extraskeletal Myxoid Chondrosarcoma
- Ischio-Vertebral Syndrome
- Isolated Focal Cortical Dysplasia Type I
- Isolated Focal Cortical Dysplasia Type Ia
- Isolated Focal Cortical Dysplasia Type Ib
- Isolated Focal Cortical Dysplasia Type Ic
- Isolated Focal Cortical Dysplasia Type II
- Isolated Focal Cortical Dysplasia Type IIa
- Isolated Focal Cortical Dysplasia Type IIb
J1
K2
L18
- Langer Mesomelic Dysplasia Syndrome
- Laron-Type Isolated Somatotropin Defect
- Larsen-Like Osseous Dysplasia-Short Stature Syndrome
- Legg-Calve-Perthes Disease
- Lelis Syndrome
- Lenz-Majewski Hyperostosis Syndrome
- Leri-Weill Dyschondrosteosis
- Lethal Chondrodysplasia, Seller Type
- Lethal Faciocardiomelic Dysplasia
- Lethal Kniest-Like Dysplasia
- Lethal Osteosclerotic Bone Dysplasia
- Lethal Recessive Chondrodysplasia
- Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
- Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
- Localized Chondrosarcoma
- Loeys-Dietz Syndrome 1
- Lymphatic Malformation 6
- Lysosomal Storage Disease With Skeletal Involvement
M66
- Maffucci Syndrome
- Mandibuloacral Dysplasia
- Mandibuloacral Dysplasia Progeroid Syndrome
- Mandibuloacral Dysplasia With Type A Lipodystrophy
- Mandibuloacral Dysplasia With Type B Lipodystrophy
- Mandibulofacial Dysostosis
- Mandibulofacial Dysostosis With Alopecia
- Mandibulofacial Dysostosis-Macroblepharon-Macrostomia Syndrome
- Mazabraud Syndrome
- Meacham Syndrome
- Mesenchymal Chondrosarcoma
- Mesomelia-Synostoses Syndrome
- Mesomelic Dwarfism, Nievergelt Type
- Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
- Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
- Mesomelic Dysplasia
- Mesomelic Dysplasia, Kantaputra Type
- Mesomelic Dysplasia, Savarirayan Type
- Metachondromatosis
- Metaphyseal Anadysplasia
- Metaphyseal Anadysplasia 2
- Metaphyseal Chondrodysplasia
- Metaphyseal Chondrodysplasia, Jansen Type
- Metaphyseal Chondrodysplasia, Kaitila Type
- Metaphyseal Chondrodysplasia, McKusick Type
- Metaphyseal Chondrodysplasia, Schmid Type
- Metaphyseal Chondrodysplasia, Spahr Type
- Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome
- Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
- Metaphyseal Dysplasia Without Hypotrichosis
- Metaphyseal Dysplasia, Braun-Tinschert Type
- Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome
- Metaphyseal Undermodeling, Spondylar Dysplasia, And Overgrowth
- Metatropic Dysplasia
- MGP-Related Spondyloepiphyseal Dysplasia
- Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
- Microcephalic Osteodysplastic Primordial Dwarfism
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Microcephalic Osteodysplastic Primordial Dwarfism Types I And III
- Microcephalic Osteodysplastic Primordial Dwarfism, Type 3
- Microcephalic Primordial Dwarfism Due To RTTN Deficiency
- Microcephalic Primordial Dwarfism Due To ZNF335 Deficiency
- Microcephalic Primordial Dwarfism, Alazami Type
- Microcephalic Primordial Dwarfism, Toriello Type
- Micromelic Bone Dysplasia With Cloverleaf Skull
- Microspherophakia-Metaphyseal Dysplasia Syndrome
- Midface Dysplasia
- Miller Syndrome
- MIR140-Related Spondyloepiphyseal Dysplasia
- Mononen-Karnes-Senac Syndrome
- Monostotic Fibrous Dysplasia
- Morbus Kienboeck
- Morbus Osgood-Schlatter
- Multiple Epiphyseal Dysplasia
- Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
- Multiple Epiphyseal Dysplasia Type 1
- Multiple Epiphyseal Dysplasia Type 4
- Multiple Epiphyseal Dysplasia Type 5
- Multiple Epiphyseal Dysplasia, Al-Gazali Type
- Multiple Epiphyseal Dysplasia, Beighton Type
- Multiple Epiphyseal Dysplasia, Lowry Type
- Multiple Epiphyseal Dysplasia, With Miniepiphyses
- Multiple Epiphyseal Dysplasia, With Severe Proximal Femoral Dysplasia
- Multiple Synostosis Syndrome
- Myelodysplastic Syndrome With Multilineage Dysplasia
- Myxoid Chondrosarcoma
N22
- Nager Syndrome
- Nail And Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome
- Nail-Patella Syndrome
- Namaqualand Hip Dysplasia
- Neonatal Osteosclerotic Dysplasia
- Neuronal Intestinal Dysplasia, Type B
- Nevada Syndrome
- Non-Rhizomelic Chondrodysplasia Punctata
- Non-Syndromic Bicoronal And Metopic Craniosynostosis
- Non-Syndromic Bicoronal And Sagittal Craniosynostosis
- Non-Syndromic Bilambdoid Craniosynostosis
- Non-Syndromic Metopic And Sagittal Craniosynostosis
- Non-Syndromic Metopic Craniosynostosis
- Non-Syndromic Multisutural Craniosynostosis
- Non-Syndromic Non-Specific Multisutural Craniosynostosis
- Non-Syndromic Unicoronal And Sagittal Craniosynostosis
- Non-Syndromic Unicoronal Craniosynostosis
- Non-Syndromic Unifrontosphenoidal Craniosynostosis
- Non-Syndromic Unilambdoid Craniosynostosis
- Non-Syndromic Unisquamosal Craniosynostosis
- Non-Syndromic Unisutural Craniosynostosis
- Nonsyndromic Congenital Nail Disorder 7
O58
- Oculodentodigital Dysplasia
- Oculodentodigital Dysplasia, Autosomal Recessive
- Oculomaxillofacial Dysostosis
- Oculotrichodysplasia
- Odonto-Onycho Dysplasia-Alopecia Syndrome
- Odonto-Onycho-Dermal Dysplasia
- Odontochondrodysplasia
- Odontochondrodysplasia 1
- Odontochondrodysplasia 2 With Hearing Loss And Diabetes
- Odontomicronychial Dysplasia
- Oligodontia-Cancer Predisposition Syndrome
- Omodysplasia
- Ophthalmomandibulomelic Dysplasia
- Opsismodysplasia
- Osebold-Remondini Syndrome
- Osteochondrodysplasia
- Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome
- Osteochondrosis
- Osteocraniostenosis
- Osteofibrous Dysplasia
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta And A Reduction Of Bone Mineral Density.
- Osteogenesis Imperfecta Type 10
- Osteogenesis Imperfecta Type 11
- Osteogenesis Imperfecta Type 12
- Osteogenesis Imperfecta Type 13
- Osteogenesis Imperfecta Type 14
- Osteogenesis Imperfecta Type 15
- Osteogenesis Imperfecta Type 16
- Osteogenesis Imperfecta Type 17
- Osteogenesis Imperfecta Type 5
- Osteogenesis Imperfecta Type 6
- Osteogenesis Imperfecta Type 7
- Osteogenesis Imperfecta Type 8
- Osteogenesis Imperfecta Type 9
- Osteogenesis Imperfecta Type I
- Osteogenesis Imperfecta Type III
- Osteogenesis Imperfecta With Normal Sclerae, Dominant Form
- Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones But Without Fractures
- Osteogenesis Imperfecta, IIA 22
- Osteogenesis Imperfecta, Perinatal Lethal
- Osteogenesis Imperfecta, Type 18
- Osteogenesis Imperfecta, Type 19
- Osteogenesis Imperfecta, Type 20
- Osteogenesis Imperfecta, Type 21
- Osteogenesis Imperfecta, Type 23
- Osteoglophonic Dysplasia
- Osteopetrosis
- Osteopetrosis, Autosomal Dominant 3
- Osteopetrosis, Autosomal Recessive 9
- Osteosclerosis - Stanescu Type
- Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
- Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
- Osteosclerotic Metaphyseal Dysplasia
- Otodental Syndrome
- Otospondylomegaepiphyseal Dysplasia
- Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
- Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
P34
- Pacman Dysplasia
- Pancreatic Intraductal Papillary-Mucinous Neoplasm With High Grade Dysplasia
- Pancreatic Intraductal Papillary-Mucinous Neoplasm With Low Grade Dysplasia
- Panner Disease
- Panostotic Fibrous Dysplasia
- Parastremmatic Dwarfism
- Parietal Foramina With Cleidocranial Dysplasia
- Patterson-Stevenson-Fontaine Syndrome
- Pediatric Mesenchymal Chondrosarcoma
- Pediatric Myxoid Chondrosarcoma
- Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
- Pelvis-Shoulder Dysplasia
- Pelviscapular Dysplasia
- Periosteal Chondroma
- Periosteal Chondrosarcoma
- Peripheral Dysostosis
- Peters Plus Syndrome
- Phalanx Chondroma
- Pili Torti-Onychodysplasia Syndrome
- Pilodental Dysplasia-Refractive Errors Syndrome
- Platyspondylic Dysplasia, Torrance Type
- Polyostotic Fibrous Dysplasia Of Bone
- Pontine Tegmental Cap Dysplasia
- Prata-Liberal-Goncalves Syndrome
- Preaxial Digit Brachydactyly-Webbed Fingers
- Primordial Dwarfism And Slender Bone Disorder
- Progressive Pseudorheumatoid Dysplasia
- Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
- Pseudodiastrophic Dysplasia
- Pure Hair And Nail Ectodermal Dysplasia
- Pyknoachondrogenesis
- Pyknodysostosis
- Pyle Metaphyseal Dysplasia
- Pyoderma Gangrenosum-Acne-Hidradenitis Suppurativa-Ankylosing Spondylitis Syndrome
R16
- Rapp-Hodgkin Syndrome
- Regional Odontodysplasia
- Regressive Spondylometaphyseal Dysplasia
- Relapsing Polychondritis
- Rhizomelic Chondrodysplasia Punctata
- Rhizomelic Chondrodysplasia Punctata Type 1
- Rhizomelic Chondrodysplasia Punctata Type 2
- Rhizomelic Chondrodysplasia Punctata Type 3
- Rhizomelic Chondrodysplasia Punctata Type 5
- Rhizomelic Dysplasia
- Rhizomelic Dysplasia, Ain-Naz Type
- Rhizomelic Dysplasia, Patterson-Lowry Type
- Rickets
- Robinow Syndrome
- Roifman Syndrome
- Russell-Silver Syndrome
S117
- SBDS-Related Severe Neonatal Spondylometaphyseal Dysplasia
- Schneckenbecken Dysplasia
- Schöpf-Schulz-Passarge Syndrome
- Segmental Odontomaxillary Dysplasia
- Septo-Optic Dysplasia Sequence
- Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
- Severe Spondylodysplastic Dysplasia
- SF3B4-Related Acrofacial Dysostosis
- Short Rib Dysplasia
- Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
- Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
- Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome
- Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
- Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 14 With Polydactyly
- Short-Rib Thoracic Dysplasia 15 With Polydactyly
- Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 18 With Polydactyly
- Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 20 With Polydactyly
- Short-Rib Thoracic Dysplasia 21 Without Polydactyly
- Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
- Short-Rib Thoracic Dysplasia 7/20 With Polydactyly, Digenic
- Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
- Shprintzen-Goldberg Syndrome
- Simpson-Golabi-Behmel Syndrome
- Sinding-Larsen-Johansson Disease
- Situs Inversus Totalis With Cystic Dysplasia Of Kidneys And Pancreas
- Six2-Related Frontonasal Dysplasia
- Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
- Smith-McCort Dysplasia
- Smith-McCort Dysplasia 1
- Smith-McCort Dysplasia 2
- Sponastrime Dysplasia
- Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
- Spondylo-Ocular Syndrome
- Spondylocamptodactyly Syndrome
- Spondylocarpotarsal Synostosis Syndrome
- Spondylocostal Dysostosis
- Spondylocostal Dysostosis 1, Autosomal Recessive
- Spondylocostal Dysostosis 2, Autosomal Recessive
- Spondylocostal Dysostosis 3, Autosomal Recessive
- Spondylocostal Dysostosis 4, Autosomal Recessive
- Spondylocostal Dysostosis 5
- Spondylocostal Dysostosis 6, Autosomal Recessive
- Spondylocostal Dysostosis-Anal And Genitourinary Malformations Syndrome
- Spondylodysplastic Dysplasia
- Spondylodysplastic Ehlers-Danlos Syndrome
- Spondyloenchondrodysplasia With Immune Dysregulation
- Spondyloepimetaphyseal Dysplasia
- Spondyloepimetaphyseal Dysplasia With Joint Laxity
- Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
- Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
- Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
- Spondyloepimetaphyseal Dysplasia, Aggrecan Type
- Spondyloepimetaphyseal Dysplasia, Di Rocco Type
- Spondyloepimetaphyseal Dysplasia, Genevieve Type
- Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
- Spondyloepimetaphyseal Dysplasia, Handigodu Type
- Spondyloepimetaphyseal Dysplasia, Isidor Type
- Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
- Spondyloepimetaphyseal Dysplasia, Krakow Type
- Spondyloepimetaphyseal Dysplasia, Li-Shao-Li Type
- Spondyloepimetaphyseal Dysplasia, Maroteaux Type
- Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
- Spondyloepimetaphyseal Dysplasia, Missouri Type
- Spondyloepimetaphyseal Dysplasia, PAPSS2 Type
- Spondyloepimetaphyseal Dysplasia, Shohat Type
- Spondyloepimetaphyseal Dysplasia, Strudwick Type
- Spondyloepimetaphyseal Dysplasia-Abnormal Dentition Syndrome
- Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome
- Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome
- Spondyloepiphyseal Dysplasia
- Spondyloepiphyseal Dysplasia Congenita
- Spondyloepiphyseal Dysplasia Tarda
- Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
- Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
- Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
- Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
- Spondyloepiphyseal Dysplasia Tarda, Kohn Type
- Spondyloepiphyseal Dysplasia Tarda, X-Linked
- Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
- Spondyloepiphyseal Dysplasia With Metatarsal Shortening
- Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
- Spondyloepiphyseal Dysplasia, Cantu Type
- Spondyloepiphyseal Dysplasia, Kimberley Type
- Spondyloepiphyseal Dysplasia, Kondo-Fu Type
- Spondyloepiphyseal Dysplasia, MacDermot Type
- Spondyloepiphyseal Dysplasia, Nishimura Type
- Spondyloepiphyseal Dysplasia, Reardon Type
- Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
- Spondyloepiphyseal Dysplasia, Stanescu Type
- Spondylometaphyseal Dysplasia
- Spondylometaphyseal Dysplasia - Sutcliffe Type
- Spondylometaphyseal Dysplasia With Corneal Dystrophy
- Spondylometaphyseal Dysplasia, A4 Type
- Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type
- Spondylometaphyseal Dysplasia, East African Type
- Spondylometaphyseal Dysplasia, Golden Type
- Spondylometaphyseal Dysplasia, Kozlowski Type
- Spondylometaphyseal Dysplasia, Pagnamenta Type
- Spondylometaphyseal Dysplasia, Schmidt Type
- Spondylometaphyseal Dysplasia, Sedaghatian Type
- Spondylometaphyseal Dysplasia-Bowed Forearms-Facial Dysmorphism Syndrome
- Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
- Spondyloperipheral Dysplasia
- Stüve-Wiedemann Syndrome 1
- Sugarman Brachydactyly
- Supratip Dysplasia
- Symbrachydactyly Of Hand And Foot, Bilateral
- Symbrachydactyly Of Hands And Feet
- Symphalangism-Brachydactyly Syndrome
- Syndromic Craniosynostosis
T26
- T-Cell Immunodeficiency With Epidermodysplasia Verruciformis
- TCF12-Related Craniosynostosis
- Teebi Hypertelorism Syndrome 1
- Temtamy Preaxial Brachydactyly Syndrome
- Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
- Thanatophoric Dysplasia
- Thanatophoric Dysplasia Type 1
- Thanatophoric Dysplasia, Glasgow Variant
- Thanatophoric Dysplasia, Type 2
- Thoracic Dysostosis, Isolated
- Thoracic Dysplasia-Hydrocephalus Syndrome
- Thoracolaryngopelvic Dysplasia
- Thoracomelic Dysplasia
- Thymic Dysplasia
- Tibia Vara
- Tibial Hemimelia
- TP63-Related Ectodermal Dysplasia Spectrum With Limb And Orofacial Malformations
- Treacher Collins Syndrome
- Trichodermodysplasia-Dental Alterations Syndrome
- Trichodysplasia-Amelogenesis Imperfecta Syndrome
- Trichodysplasia-Xeroderma Syndrome
- Trichoodontoonychial Dysplasia
- Trichorhinophalangeal Dysplasia Type I
- TWIST1-Related Craniosynostosis
- Type A2 Brachydactyly
- Type A5 Brachydactyly
U5
V9
- Virus-Associated Trichodysplasia Spinulosa
- Vitamin D Hydroxylation-Deficient Rickets, Type 1B
- Vitamin D-Dependent Rickets
- Vitamin D-Dependent Rickets Type II With Alopecia
- Vitamin D-Dependent Rickets, Type 1
- Vitamin D-Dependent Rickets, Type 1A
- Vitamin D-Dependent Rickets, Type 2
- Vitamin D-Dependent Rickets, Type 2B
- Vitamin D-Dependent Rickets, Type 3