Gaucher's disease perinatal lethal Disease Ontology Browser

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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 homozygous or compound heterozygous mutation in the GBA1 gene 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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