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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