Preferred Name | Peutz-Jeghers syndrome | |
Synonyms |
polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral polyps-and-Spots syndrome polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS |
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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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0008280 |
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altLabel |
polyposis, hamartomatous intestinal periorificial lentiginosis syndrome Peutz Jeghers polyposis lentiginosis, perioral polyps-and-Spots syndrome polyps and spots syndrome Jeghers-Peutz syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp Peutz-Jeghers small bowel hamartoma Peutz's syndrome Peutz-Jeghers syndrome Peutz Jeghers colon polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis PJS |
|
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. |
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disease has feature |
http://purl.obolibrary.org/obo/MONDO_0020178 http://purl.obolibrary.org/obo/MONDO_0006365 |
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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'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 |
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label |
Peutz-Jeghers syndrome |
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prefixIRI |
MONDO:0008280 |
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prefLabel |
Peutz-Jeghers syndrome |
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seeAlso |
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome |
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textual 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. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017128 http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0015185 |