GGDonto: Genetic Glyco-Diseases Ontology

CON00098 :  'Combined saposin deficiency'  (Integration tree)  (Degradation tree)
Common disease names	prosaposin deficiency  saposin deficiency
Full list of disease names	Preferred Term  COMBINED SAPOSIN DEFICIENCY Synonyms (from OMIM and MeSH)  COMBINED SAP DEFICIENCY  PROSAPOSIN DEFICIENCY  PSAPD
UMLS CUI	C2673635
UMLS SAB	MeSH (SCR)
UMLS CODE	C567125
OMIM DATA	Gene  PSAP Gene Number  176801 Phenotype Number  611721
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.3 Defects in glycolipid degradation.   Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
GDGDB	(97)

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