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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/1897529 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: Gba Deficiency GD1 Acid Beta-Glucosidase Deficiency Glucocerebrosidase Deficiency GD I Gaucher Disease, Noncerebral Juvenile

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:77259
  • MIM:230800
  • ICD10CM:E75.2
Subsets

DO_rare_slim

acronym
GD I

acronym
GD1

has obo namespace

disease_ontology

id

DOID:0110957