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autosomal dominant brachyolmia

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
Uniprot Description A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.
Mondo Term and Equivalent IDs
MONDO:0007232:  autosomal dominant brachyolmia
GARD:0010429: 
Orphanet:93304: 
SCTID:717264003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found