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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5593
http://purl.bioontology.org/ontology/CSP/1849-5593
|
|---|---|
| Preferred Name | metachromatic leukodystrophy |
| Definitions |
autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.
|
| Synonyms |
sulfatide lipoidosis
metachromatic leukoencephaly
arylsulfatase A deficiency
metachromatic leukoencephalopathy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs. |
|---|---|
| altLabel |
sulfatide lipoidosis
metachromatic leukoencephaly
arylsulfatase A deficiency
metachromatic leukoencephalopathy
|
| prefLabel | metachromatic leukodystrophy
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-5593
|
| Semantic type UMLS property | |
| DID | 1849-5593
|
| cui |
C0023522
C2713319
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |