loading...| Preferred Name | Peutz-Jeghers Syndrome | |
| Synonyms |
Peutz's Syndrome Peutz-Jeghers Syndrome Peutz-Jeghers Disease Jeghers-Peutz Syndrome Peutz-Jeghers syndrome PJS |
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| Definitions |
An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3324 |
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| ALT_DEFINITION |
A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer. |
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| code |
C3324 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159416 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
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| Contributing_Source |
Cellosaurus CCPS CPTAC GDC |
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| DEFINITION |
An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome. |
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| FULL_SYN |
Peutz's Syndrome Peutz-Jeghers Syndrome Peutz-Jeghers Disease Jeghers-Peutz Syndrome Peutz-Jeghers syndrome PJS |
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| Is_Value_For_GDC_Property | ||
| label |
Peutz-Jeghers Syndrome |
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| Legacy Concept Name |
Peutz-Jeghers_Syndrome |
|
| Maps_To |
Peutz-Jeghers Disease |
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| Preferred_Name |
Peutz-Jeghers Syndrome |
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| prefixIRI |
Thesaurus:C3324 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0031269 |
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| subClassOf |