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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,
Echinobase Genes :
MIM:615362 - ceroid lipofuscinosis, neuronal, 13; cln13 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neuronal ceroid lipofuscinosis (is_a)