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Disease Ontology Browser
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 an autosomal recessive mutation of GBA on chromosome 1q22.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory