| 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 |
SNOMEDCT_US_2023_03_01:3621006 |
| 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 |