OBO ID: DOID:0080844
Term Name: omodysplasia 1 Search Ontology:
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)
OTHER omodysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPC6 Omodysplasia 1 258315
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None