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DOID:0110961 - atypical Gaucher's disease due to saposin c deficiency
Disease Ontology Definition:A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
Synonyms:
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0012517 - Gaucher disease due to saposin C deficiency |
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)