GGDonto: Genetic Glyco-Diseases Ontology

CON00078 :  'Multiple sulfatase deficiency'  (Integration tree)  (Degradation tree)
Common disease names	MSD  Multiple sulfatase deficiency disease
Full list of disease names	Preferred Term  MULTIPLE SULFATASE DEFICIENCY Preferred Term ABBR  MSD Synonyms (from OMIM and MeSH)  MUCOSULFATIDOSIS  SULFATIDOSIS, JUVENILE, AUSTIN TYPE
UMLS CUI	C0268263
UMLS SAB	MeSH
UMLS CODE	D052517
OMIM DATA	Gene  SUMF1 Gene Number  607939 Phenotype Number  272200
References	Concept   Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.   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	(98)

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