omodysplasia 1 (DOID:0080844)
Alliance: disease page
Alt IDs: OMIM:258315, MESH:C537746, ORDO:93329, UMLS_CUI:C1850318
Definition: An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.