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DOID:0060571 - Ritscher-Schinzel syndrome 1
Disease Ontology Definition:A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24.
Synonyms:
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Ritscher-Schinzel syndrome (is_a)