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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Sulfatidosis [Disease/Finding] | |
| Synonyms |
Sulfatidosis |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181235 |
|
| altLabel |
Sulfatidosis
|
|
| cui |
C1706192
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|
| MESH DEFINITION |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage).
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| MESH DUI |
D052516
|
|
| MeSH name |
Sulfatidosis
|
|
| MESH UI |
M0487455
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000181235
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|
| NUI |
N0000181235
|
|
| prefLabel |
Sulfatidosis [Disease/Finding]
|
|
| tui |
T047
|
|
| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/MSHFRE/D052516 | MSHFRE | CUI |
| http://purl.bioontology.org/ontology/MESH/D052516 | MESH | CUI |