A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [ url:https://www.ncbi.nlm.nih.gov/pubmed/10649495 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/2880291 ]

Synonyms: Infantile Cerebral Gaucher Disease GD2 GD II Gaucher Disease, Acute Neuronopathic Type

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:230900
  • ICD10CM:E75.2
  • ORDO:77260
Subsets

DO_rare_slim

acronym
GD2

acronym
GD II

has obo namespace

disease_ontology

id

DOID:0110958