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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory