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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
Xenbase Genes
:
gba1
| MONDO:0011945 - Gaucher disease perinatal lethal |
| 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),
genetic disease (is_a)