GGDonto: Genetic Glyco-Diseases Ontology

CON00080 :  'Metachromatic leukodystrophy'  (Integration tree)  (Degradation tree)
Full list of disease names	Preferred Term  METACHROMATIC LEUKODYSTROPHY Synonyms (from OMIM and MeSH)  ARSA DEFICIENCY  ARYLSULFATASE A DEFICIENCY  CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM  CEREBROSIDE SULFATASE DEFICIENCY  METACHROMATIC LEUKOENCEPHALOPATHY  MLD  SULFATIDE LIPIDOSIS INCLUDED  METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED  METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED  METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED  PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
UMLS CUI	C0023522
UMLS SAB	MeSH
UMLS CODE	D007966
OMIM DATA	Gene  ARSA Gene Number  607574 Phenotype Number  250100
References	Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB	(60)

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