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Disease Ontology Browser
Gillespie syndrome (DOID:0111578)
Alliance: disease page
Synonyms: aniridia, cerebellar ataxia and mental deficiency; aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP
Alt IDs: OMIM:206700, MESH:C536370, ORDO:1065, UMLS_CUI:C0431401
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory