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DO Term : Niemann-Pick disease type B [DOID:0070112] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
  • synonyms:
  • ICD10CM:E75.2,
  • GARD:10729,
  • 607616,
  • OMIM:607616
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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





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