ZFIN Human Disease: neuronal ceroid lipofuscinosis 13

OBO ID: DOID:0110727

Term Name:	neuronal ceroid lipofuscinosis 13		Search Ontology:
Synonyms:	CLN13 neuronal ceroid lipofuscinosis 13 Kufs type
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. https://www.ncbi.nlm.nih.gov/pubmed/23297359
References:	ICD10CM:E75.4 OMIM:615362 ORDO:352709
Ontology:	Human Disease ( DOID:0110727 )

Relationships

is a type of:	autosomal recessive disease neuronal ceroid lipofuscinosis autosomal recessive disease neuronal ceroid lipofuscinosis Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CTSF	ctsf	Ceroid lipofuscinosis, neuronal, 13 (Kufs type)	615362

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)