FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term metachromatic leukodystrophy ID (Ontology) DOID:10581 (Human Disease)
Definition A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
Also Known As "arylsulfatase A deficiency" ; "deficiency of cerebroside-sulfatase" ; "MLD" (for all, see Synonyms field below)
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 Genes
 metachromatic leukodystrophy       6
 for disease ribbon | metachromatic leukodystrophy       6
 model of | metachromatic leukodystrophy       6
Spanning Tree (Parents/Children)
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  lipid storage disease
   |__sphingolipidosis
       |__metachromatic leukodystrophy  6 rec.
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Is a sphingolipidosis
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Synonyms
  • "arylsulfatase A deficiency" EXACT
    "deficiency of cerebroside-sulfatase" EXACT
    "MLD" EXACT OMO:0003012
    "Scholz cerebral sclerosis" EXACT
    "sulfatide lipoidosis" EXACT
Secondary IDs
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GARD:3230
ICD10CM:E75.25
MESH:D007966
MIM:249900
MIM:250100
NCI:C61251
ORDO:512
SNOMEDCT_US_2023_03_01:3621006
UMLS_CUI:C0023522