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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_2869
http://www.orpha.net/ORDO/Orphanet_2869
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|---|---|
| Preferred Name | Peutz-Jeghers syndrome |
| 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.
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| Synonyms |
Hamartomatous intestinal polyposis
PJS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| 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. |
| label |
Peutz-Jeghers syndrome
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| prefLabel |
Peutz-Jeghers syndrome
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| hasDbXref |
OMIM:175200
ICD-10:Q85.8
MeSH:D010580
ICD-11:LD2D.0
MedDRA:10034764
UMLS:C0031269
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| notation |
ORPHA:2869
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| alternative_term |
Hamartomatous intestinal polyposis
PJS
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| 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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| part_of |
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| prefixIRI |
ORDO:Orphanet_2869
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal dominant
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| has_age_of_onset |
Adolescent
Adult
Childhood
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| treeView |
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