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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

OMIM:258315

ORDO:93329

SNOMEDCT_US_2020_09_01:725166005

UMLS_CUI:C1850318

Parent Relationships

is_a omodysplasia

is_a autosomal recessive disease

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