Search Ontology:
Human Disease

Gaucher's disease type I

Term ID
DOID:0110957
Synonyms
  • Acid Beta-Glucosidase Deficiency
  • Gaucher Disease, Noncerebral Juvenile
  • Gba Deficiency
  • GD I
  • GD1
  • Glucocerebrosidase Deficiency
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/1897529
References
Ontology
Human Disease   ( DOID:0110957 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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