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DO Term : neuronal ceroid lipofuscinosis 10 [DOID:0110725] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
  • synonyms:
  • ORDO:228337,
  • OMIM:610127,
  • neuronal ceroid lipofuscinosis cathepsin D-deficient,
  • neuronal ceroid lipofuscinosis due to cathepsin D deficiency,
  • GARD:1218,
  • ICD10CM:E75.4,
  • 610127,
  • CLN10,
  • Cathepsin D deficiency
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Disease

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