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 an autosomal recessive mutation of GBA on chromosome 1q22.

Synonyms: Fetal Gaucher Disease, Gaucher Disease, Collodion Type

In OMIM:

OMIM:608013 - GAUCHER DISEASE, PERINATAL LETHAL

In Mondo Disease Ontology:

MONDO:0011945 - Gaucher disease perinatal lethal

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gba

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