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DOID:0060481 - Goldberg-Shprintzen syndrome
Disease Ontology 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.
Synonyms: Goldberg-Shprintzen megacolon syndrome,
Echinobase Genes : kifbp
MIM:609460 - goldberg-shprintzen syndrome; goshs |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)