OBO ID: DOID:0110957
Term Name: Gaucher's disease type I Search Ontology:
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 Gaucher's disease type I PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GBA Gaucher disease, type I 230800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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