Term Name: | Gaucher's disease perinatal lethal |
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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 ) |