neuronal ceroid lipofuscinosis 10

Summary

DOID:0110725 - neuronal ceroid lipofuscinosis 10

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.

Synonyms: CLN10, Cathepsin D deficiency, neuronal ceroid lipofuscinosis cathepsin D-deficient, neuronal ceroid lipofuscinosis due to cathepsin D deficiency,

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

: ctsd

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012414 - neuronal ceroid lipofuscinosis 10

MONDO:0012414 - neuronal ceroid lipofuscinosis 10

Other Model Organisms: AGR, 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)