GGDonto: Genetic Glyco-Diseases Ontology
 CON00072 :  'Gaucher disease, atypical, due to saposin C deficiency'  (Integration tree)  (Degradation tree)
Full list of disease names
Preferred Term  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Synonyms (from OMIM and MeSH)  COMBINED SAP DEFICIENCY
 PROSAPOSIN DEFICIENCY
 PSAPD
UMLS CUI  C1864651
UMLS SAB  MeSH (SCR)
UMLS CODE  C566435
OMIM DATA
Gene  PSAP
Gene Number  176801
Phenotype Number  610539
GDGDB (66)

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