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DO Term : atypical Gaucher's disease due to saposin c deficiency [DOID:0110961] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
  • synonyms:
  • OMIM:610539,
  • ICD10CM:E75.2,
  • ORDO:309252,
  • 610539
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Disease

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Ontology

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