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DO Term : neuronal ceroid lipofuscinosis 3 [DOID:0110731] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
  • synonyms:
  • CLN3,
  • OMIM:204200,
  • GARD:5897,
  • ORDO:228346,
  • ICD10CM:E75.4,
  • DOID:0050756,
  • juvenile neuronal ceroid lipofuscinosis,
  • Batten disease,
  • 204200
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