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loading...| Preferred Name |
Acatalasia [Disease/Finding] |
|
| Synonyms |
Takahara's Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004165 |
|
| altLabel |
Takahara's Disease Acatalasia Acatalasemia Takahara Disease |
|
| cui |
C0268419 |
|
| MESH DEFINITION |
A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. |
|
| MESH DUI |
D020642 |
|
| MeSH name |
Acatalasia |
|
| MESH UI |
M0328366 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004165 |
|
| NUI |
N0000004165 |
|
| prefLabel |
Acatalasia [Disease/Finding] |
|
| SNOMED CID |
267454002 124202004 111393000 |
|
| tui |
T047 |
|
| subClassOf |
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