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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,
Echinobase Genes :
MIM:249900 - metachromatic leukodystrophy due to saposin b deficiency |
MIM:250100 - metachromatic leukodystrophy |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
sphingolipidosis (is_a)