Search Ontology:
Human Disease
metachromatic leukodystrophy
- Term ID
- DOID:10581
- Synonyms
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- arylsulfatase A deficiency
- deficiency of cerebroside-sulfatase
- MLD
- Scholz cerebral sclerosis
- sulfatide lipoidosis
- Definition
- A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (2)
- References
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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
- Ontology
- Human Disease ( DOID:10581 )
- is a type of
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Genes Involved
Zebrafish Models