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Echinobase
Summary Literature (0)
DOID:0110728 - neuronal ceroid lipofuscinosis 5

Disease Ontology Definition:A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

Synonyms: CLN5, neuronal ceroid lipofuscinosis 5 variable age of onset,

Echinobase Genes :


OMIM:
MIM:256731 - ceroid lipofuscinosis, neuronal, 5; cln5

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), neuronal ceroid lipofuscinosis (is_a)