loading...| Preferred Name |
metachromatic leukodystrophy |
| Synonyms |
arylsulfatase A deficiency |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| ID |
http://purl.obolibrary.org/obo/DOID_10581 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:E75.25 OMIM:250100 NCI:C61251 MESH:D007966 OMIM:249900 SNOMEDCT_US_2020_03_01:3621006 ORDO:512 GARD:3230 UMLS_CUI:C0023522 |
| has exact synonym |
arylsulfatase A deficiency deficiency of cerebroside-sulfatase Scholz cerebral sclerosis MLD sulfatide lipoidosis |
| id |
DOID:10581 |
| in_subset | |
| label |
metachromatic leukodystrophy |
| notation |
DOID:10581 |
| prefLabel |
metachromatic leukodystrophy |
| textual definition |
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |