loading...| Preferred Name |
Peutz-Jeghers Syndrome |
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| Synonyms |
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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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_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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| 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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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C156952 http://purl.obolibrary.org/obo/NCIT_C156953 http://purl.obolibrary.org/obo/NCIT_C159416 http://purl.obolibrary.org/obo/NCIT_C177281 |
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| Is_Value_For_GDC_Property | ||
| label |
Peutz-Jeghers Syndrome |
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| Legacy Concept Name |
Peutz-Jeghers_Syndrome |
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| Maps_To |
Peutz-Jeghers Disease |
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| Preferred_Name |
Peutz-Jeghers Syndrome |
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| prefixIRI |
NCIT:C3324 |
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| prefLabel |
Peutz-Jeghers Syndrome |
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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 |