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DO Term : Niemann-Pick disease type A [DOID:0070111] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
  • synonyms:
  • 257200,
  • GARD:7206,
  • OMIM:257200,
  • ICD10CM:E75.2
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents