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Echinobase
Summary Literature (0)
DOID:0110960 - Gaucher's disease perinatal lethal

Disease Ontology 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.

Synonyms: Fetal Gaucher Disease, Gaucher Disease, Collodion Type

Echinobase Genes :


MIM:
MIM:608013 - gaucher disease, perinatal lethal

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Gaucher's disease (is_a)