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DOID:0110732 - neuronal ceroid lipofuscinosis 11
Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
Synonyms: CLN11
Xenbase Genes : grn
MONDO:0013866 - neuronal ceroid lipofuscinosis 11 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
genetic disease (is_a),
neuronal ceroid lipofuscinosis (is_a)