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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | metachromatic leukodystrophy | |
| Synonyms |
deficiency of cerebroside-sulfatase sulfatide lipoidosis MLD arylsulfatase A deficiency Scholz cerebral sclerosis |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_10581 |
|
| comment |
Xref MGI.
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
deficiency of cerebroside-sulfatase sulfatide lipoidosis MLD arylsulfatase A deficiency Scholz cerebral sclerosis
|
|
| database_cross_reference |
ICD10CM:E75.25 OMIM:249900 MESH:D007966 OMIM:250100 UMLS_CUI:C0023522 SNOMEDCT_US_2023_03_01:3621006 GARD:3230 NCI:C61251 ORDO:512
|
|
| definition |
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].
|
|
| equivalentClass | ||
| has exact synonym |
deficiency of cerebroside-sulfatase sulfatide lipoidosis MLD arylsulfatase A deficiency Scholz cerebral sclerosis
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:10581
|
|
| in_subset | ||
| label |
metachromatic leukodystrophy
|
|
| notation |
DOID:10581
|
|
| note |
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].
|
|
| preferred label |
metachromatic leukodystrophy
|
|
| prefLabel |
metachromatic leukodystrophy
|
|
| subClassOf |
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