About   Help   FAQ
Disease Ontology Browser
Goldberg-Shprintzen syndrome (DOID:0060481)
Alliance: disease page
Synonyms: Goldberg-Shprintzen megacolon syndrome
Alt IDs: OMIM:609460, MESH:C537279, ORDO:66629, UMLS_CUI:C1836123
Definition: A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

Disease References using Mouse Models (1)

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, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory