Visualize Submit Comment
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

MESH:C537746

MIM:258315

ORDO:93329

SNOMEDCT_US_2023_03_01:725166005

UMLS_CUI:C1850318

Subsets

DO_rare_slim

Parent Relationships

is_a omodysplasia

is_a autosomal recessive disease

Add an item to the term tracker