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DOID:0110720 - neuronal ceroid lipofuscinosis 4
Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
Synonyms: CLN4B disease, autosomal dominant neuronal ceroid lipofuscinosis 4B, neuronal ceroid lipofuscinosis 4 Parry type, neuronal ceroid lipofuscinosis 4B,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee