Term Name: Gaucher's disease perinatal lethal
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.
Ontology: Human Disease [DOID:0110960]   ( DOID:0110960 )

Relationships
is a type of: Gaucher's disease