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
-
- MESH:C537746
- MIM:258315
- ORDO:93329
- SNOMEDCT_US_2023_03_01:725166005
- UMLS_CUI:C1850318
- Ontology
- Human Disease ( DOID:0080844 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models