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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 (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory