Leukodystrophy, Metachromatic
Disease ID: disease_node_4712
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| Dbxref | GARD:3230, ICD10CM:E75.25, MESH:D007966, MIM:249900, MIM:250100, NCI:C61251, ORDO:512, SNOMEDCT_US_2023_03_01:3621006, UMLS_CUI:C0023522 |
|---|---|
| Subclassof | DOID_1927 |
| Data Source | DOID, MESH |
| Synonyms | MLD, Scholz cerebral sclerosis, arylsulfatase A deficiency, deficiency of cerebroside-sulfatase, sulfatide lipoidosis |
| Mesh Id | D007966 |
| Mesh Label | Leukodystrophy, Metachromatic |
| Mesh Subclassof | D020279, D052516 |
| Doid Label | metachromatic leukodystrophy |
| Doid Description | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_4712 |
| Doid Id | DOID_10581 |
| Label | Leukodystrophy, Metachromatic |
- Outgoing r'ship
SUBCLASS_OFto/from Sphingolipidoses(ID:disease_node_7022) (Disease)