loading...| Preferred Name | Peutz-Jeghers Syndrome [Disease/Finding] | |
| Synonyms |
Lentiginosis, Perioral Polyps-and-Spots Syndrome Peutz-Jeghers Polyposis Peutz-Jeghers Syndrome Periorificial Lentiginosis Syndrome Polyposis, Hamartomatous Intestinal Peutz-Jegher's Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002382 |
|
| altLabel |
Lentiginosis, Perioral Polyps-and-Spots Syndrome Peutz-Jeghers Polyposis Peutz-Jeghers Syndrome Periorificial Lentiginosis Syndrome Polyposis, Hamartomatous Intestinal Peutz-Jegher's Syndrome |
|
| cui |
C0031269 |
|
| MESH DEFINITION |
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. |
|
| MESH DUI |
D010580 |
|
| MeSH name |
Peutz-Jeghers Syndrome |
|
| MESH UI |
M0016441 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002382 |
|
| NUI |
N0000002382 |
|
| prefLabel |
Peutz-Jeghers Syndrome [Disease/Finding] |
|
| SNOMED CID |
54411001 |
|
| tui |
T047 |
|
| subClassOf |