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DO Term : neuronal ceroid lipofuscinosis 5 [DOID:0110728] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
ICD10CM:E75.4,
CLN5,
ORDO:228360,
GARD:1223,
256731,
neuronal ceroid lipofuscinosis 5 variable age of onset,
OMIM:256731

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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