neuronal ceroid lipofuscinosis 13

Summary

DOID:0110727 - neuronal ceroid lipofuscinosis 13

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.

Synonyms: CLN13, neuronal ceroid lipofuscinosis 13 Kufs 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

: ctsf

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014147 - neuronal ceroid lipofuscinosis 13

MONDO:0014147 - neuronal ceroid lipofuscinosis 13

MIM:

MIM:615362 - CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE); CLN13

MIM:615362 - CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE); CLN13

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)