GGDonto: Genetic Glyco-Diseases Ontology

CON00084 :  'Metachromatic leukodystrophy, due to saposin B deficiency'  (Integration tree)  (Degradation tree)
Common disease names	Sphingolipid activator protein 1 deficiency
Full list of disease names	Preferred Term  METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Synonyms (from OMIM and MeSH)  METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY  SAPOSIN B DEFICIENCY
UMLS CUI	C0268262
UMLS SAB	MeSH (SCR)
UMLS CODE	C562609
OMIM DATA	Gene  PSAP Gene Number  176801 Phenotype Number  249900
References	Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(61)

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