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Summary Literature (0)
DOID:10581 - metachromatic leukodystrophy


Disease Ontology Definition:A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.

Synonyms: MLD; Scholz cerebral sclerosis; arylsulfatase A deficiency; deficiency of cerebroside-sulfatase; sulfatide lipoidosis

Referenced OMIM:
OMIM:249900 - METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM:250100 - METACHROMATIC LEUKODYSTROPHY; MLD

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : psap, arsa.2, arsa.1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): sphingolipidosis (is_a)


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