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omodysplasia

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Disease Ontology Description An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene.
Mondo Term and Equivalent IDs
MONDO:0017136:  omodysplasia
OMIMPS:258315: 
Orphanet:2733: 
SCTID:725164008: 
UMLS:C4510897: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)