About   Help   FAQ
Disease Ontology Browser
omodysplasia 1 (DOID:0080844)
Alliance: disease page
Alt IDs: OMIM:258315, MESH:C537746, ORDO:93329, UMLS_CUI:C1850318
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.20
The Jackson Laboratory