atypical Gaucher's disease due to saposin c deficiency Disease Ontology Browser

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atypical Gaucher's disease due to saposin c deficiency (DOID:0110961)
Alliance: disease page
Alt IDs: OMIM:610539, ICD10CM:E75.2, ORDO:309252
Definition: A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.

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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