Metadata | |
---|---|
ID | DOID:0080844 |
Name | omodysplasia 1 |
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. https://pubmed.ncbi.nlm.nih.gov/17823719/ |
Xrefs |
SNOMEDCT_US_2023_03_01:725166005 |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a omodysplasia |