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Metadata
ID DOID:10581
Name metachromatic leukodystrophy
Definition A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
Xrefs

GARD:3230

ICD10CM:E75.25

MESH:D007966

NCI:C61251

OMIM:249900

OMIM:250100

ORDO:512

SNOMEDCT_US_2023_03_01:3621006

UMLS_CUI:C0023522

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

arylsulfatase A deficiency [EXACT]

deficiency of cerebroside-sulfatase [EXACT]

MLD [EXACT]

Scholz cerebral sclerosis [EXACT]

sulfatide lipoidosis [EXACT]

Parent Relationships

is_a sphingolipidosis

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