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DO Term : neuronal ceroid lipofuscinosis 8 [DOID:0110723] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
  • synonyms:
  • 600143,
  • ORDO:228354,
  • OMIM:600143,
  • CLN8,
  • ICD10CM:E75.4
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents