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Summary Literature (0)
DOID:0110721 - neuronal ceroid lipofuscinosis 1

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Synonyms: CLN1, neuronal ceroid lipofuscinosis 1 variable age of onset

Xenbase Genes : ppt1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009744 - lymph node medullary sinus

MIM:
MIM:256730 - CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1

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)