neuronal ceroid lipofuscinosis 4

Summary

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: autosomal dominant neuronal ceroid lipofuscinosis 4B, CLN4B disease, neuronal ceroid lipofuscinosis 4B, neuronal ceroid lipofuscinosis 4 Parry type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dnajc5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), genetic disease (is_a), neuronal ceroid lipofuscinosis (is_a)