|
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
:
psap
| MONDO:0012517 - Gaucher disease due to saposin C deficiency |
| MIM:610539 - GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY; GDSAPC |
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)