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DO Term : neuronal ceroid lipofuscinosis 2 [DOID:0110726] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
  • synonyms:
  • OMIM:204500,
  • GARD:3045,
  • neuronal ceroid lipofuscinosis 2 variable age at onset,
  • 204500,
  • CLN2,
  • ICD10CM:E75.4,
  • ORDO:228349
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