omodysplasia 1

Term ID

DOID:0080844

Synonyms

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/

References

• MESH:C537746
• OMIM:258315
• ORDO:93329
• SNOMEDCT_US_2023_03_01:725166005
• UMLS_CUI:C1850318

Ontology

Human Disease   ( DOID:0080844 )