neuronal ceroid lipofuscinosis 3

Summary

DOID:0110731 - neuronal ceroid lipofuscinosis 3

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.

Synonyms: CLN3, Batten disease, juvenile neuronal ceroid lipofuscinosis

Echinobase 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

: cln3

MIM:

MIM:204200 - ceroid lipofuscinosis, neuronal, 3; cln3

MIM:204200 - ceroid lipofuscinosis, neuronal, 3; cln3

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), neuronal ceroid lipofuscinosis (is_a)