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Summary Literature (0)
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 ITPR1 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)