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DO Term : neuronal ceroid lipofuscinosis 13 [DOID:0110727] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.
  • synonyms:
  • CLN13,
  • ICD10CM:E75.4,
  • OMIM:615362,
  • neuronal ceroid lipofuscinosis 13 Kufs type,
  • ORDO:352709,
  • 615362
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents