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otospondylomegaepiphyseal dysplasia

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Disease Ontology Description An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
Mondo Term and Equivalent IDs
MONDO:0008975:  otospondylomegaepiphyseal dysplasia
GARD:0004130: 
OMIMPS:184840: 
Orphanet:1427: 
SCTID:254060000: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)