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DOID:0111578 - Gillespie syndrome
Disease Ontology Definition:A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
Synonyms: GLSP, aniridia, cerebellar ataxia and mental deficiency, aniridia-cerebellar ataxia-intellectual disability syndrome,
Xenbase Genes
:
pax6,
itpr1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a),
syndrome (is_a)