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DO Term : Gaucher's disease type I [DOID:0110957] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
  • synonyms:
  • Acid Beta-Glucosidase Deficiency,
  • Glucocerebrosidase Deficiency,
  • GD1,
  • 230800,
  • Gba Deficiency,
  • Gaucher Disease, Noncerebral Juvenile,
  • ICD10CM:E75.2,
  • GD I,
  • ORDO:77259,
  • OMIM:230800
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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