Gaucher's disease perinatal lethal (DOID:0110960)
Alliance: disease page
Synonyms: Fetal Gaucher Disease; Gaucher Disease, Collodion Type
Alt IDs: OMIM:608013, ICD10CM:E75.2, ORDO:85212
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.