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DO Term : neuronal ceroid lipofuscinosis 1 [DOID:0110721] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
  • synonyms:
  • GARD:1219,
  • ORDO:228329,
  • OMIM:256730,
  • neuronal ceroid lipofuscinosis 1 variable age of onset,
  • ICD10CM:E75.4,
  • CLN1,
  • 256730
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