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Human Disease

Gaucher's disease perinatal lethal

Term ID
DOID:0110960
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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