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otospondylomegaepiphyseal dysplasia, autosomal dominant

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Uniprot Description An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.
Disease Ontology Description An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Mondo Term and Equivalent IDs
MONDO:0008490:  otospondylomegaepiphyseal dysplasia, autosomal dominant
MESH:C537494: 
Orphanet:166100: 
SCTID:699313003: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)