loading...| Preferred Name |
Peutz-Jeghers syndrome |
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| Synonyms |
polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz Jeghers Syndrome Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral polyps-and-Spots syndrome |
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| Definitions |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008280 |
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| closeMatch | ||
| database_cross_reference |
Orphanet:2869 UMLS:C0031269 NORD:1570 MedDRA:10034764 GARD:7378 NCIT:C3324 SCTID:54411001 OMIM:175200 MESH:D010580 UMLS:C1333088 NCIT:C4733 DOID:3852 ICD9:759.6 |
|
| definition |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_2869 http://identifiers.org/snomedct/54411001 http://purl.obolibrary.org/obo/NCIT_C3324 http://linkedlifedata.com/resource/umls/id/C0031269 |
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| has_exact_synonym |
polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz Jeghers Syndrome Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS |
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| has_related_synonym |
polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral polyps-and-Spots syndrome |
|
| id |
MONDO:0008280 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Peutz-Jeghers syndrome |
|
| notation |
MONDO:0008280 |
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| prefLabel |
Peutz-Jeghers syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome |
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| subClassOf |