Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080844 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models