genetic disease of bone/skeletal system
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More general terms
More specific terms
- Albright's hereditary osteodystrophy (AHO)
- atelosteogenesis type II (neonatal osseous dysplasia I)
- autosomal dominant syndactyly; nonsyndromic syndactyly
- Caffey's disease (infantile cortical hyperostosis)
- cleidocranial dysplasia
- cranioosteoarthropathy
- Crouzon syndrome (craniofacial dysostosis type 1, Crouzon craniofacial dysostosis)
- diastrophic dysplasia
- dyssegmental dysplasia Silverman-Handmaker type (DDSH)
- Ellis-van Creveld syndrome (chondroectodermal dysplasia)
- Grieg cephalopolysyndactyly syndrome
- hereditary rickets
- hypophosphatemic nephrolithiasis/osteoporosis type 1
- inherited disorder of osteolysis; vanishing bone syndrome; osteolysis syndrome
- Jackson-Weiss syndrome
- Jansen-type metaphyseal chondrodysplasia
- juvenile Paget's disease; hyperostosis corticalis deformans juvenilis; hereditary hyperphosphatasia; chronic congenital idiopathic hyperphosphatasia
- nail-patella syndrome (onychoosteodysplasia)
- osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
- osteopathia striata with cranial sclerosis
- osteoporosis pseudoglioma syndrome; osteogenesis imperfecta ocular form
- postaxial acrofacial dysostosis (Miller syndrome)
- primary hypertrophic osteoarthropathy (pachydermoperiostosis)
- progressive pseudorheumatoid arthropathy of childhood
- skeletal dysplasia
- Upington disease
- Weyers acrofacial dysostosis (Curry-Hall syndrome)
- X-linked hypophosphatemia