OBO ID: DOID:0110960
Term Name: Gaucher's disease perinatal lethal Search Ontology:
Synonyms:
  • Fetal Gaucher Disease
  • Gaucher Disease, Collodion Type
Definition: A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (2)
References:
Ontology: Human Disease   ( DOID:0110960 )
Relationships
is a type of:
OTHER Gaucher's disease perinatal lethal PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GBA Gaucher disease, perinatal lethal 608013
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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