loading...| Preferred Name |
Peutz-Jeghers syndrome |
|
| Synonyms |
Hamartomatous intestinal polyposis |
|
| Definitions |
A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2869 |
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| alternative_term |
Hamartomatous intestinal polyposis PJS |
|
| definition |
A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 |
|
| has_age_of_onset |
Adolescent Adult Childhood |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:175200 ICD-10:Q85.8 MeSH:D010580 ICD-11:LD2D.0 MedDRA:10034764 UMLS:C0031269 |
|
| label |
Peutz-Jeghers syndrome |
|
| notation |
ORPHA:2869 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_363314 http://www.orpha.net/ORDO/Orphanet_271835 http://www.orpha.net/ORDO/Orphanet_183466 |
|
| prefixIRI |
ORDO:Orphanet_2869 |
|
| prefLabel |
Peutz-Jeghers syndrome |
|
| present_in |
Worldwide AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.4 AND has_point_prevalence_range : 1-9 / 1 000 000 Uruguay AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98196 http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_363314 http://www.orpha.net/ORDO/Orphanet_271835 http://www.orpha.net/ORDO/Orphanet_183466 |
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| subClassOf |