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DO Term : neuronal ceroid lipofuscinosis 4 [DOID:0110720] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.
  • synonyms:
  • ORDO:228343,
  • OMIM:162350,
  • 162350,
  • CLN4B disease,
  • ICD10CM:E75.4,
  • autosomal dominant neuronal ceroid lipofuscinosis 4B,
  • neuronal ceroid lipofuscinosis 4 Parry type,
  • neuronal ceroid lipofuscinosis 4B
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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