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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/175200
http://purl.bioontology.org/ontology/OMIM/175200
|
|---|---|
| Preferred Name | PEUTZ-JEGHERS SYNDROME |
| Synonyms |
POLYPOSIS, HAMARTOMATOUS INTESTINAL
POLYPS-AND-SPOTS SYNDROME
PJS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
POLYPOSIS, HAMARTOMATOUS INTESTINAL
POLYPS-AND-SPOTS SYNDROME
PJS
|
|---|---|
| prefLabel | PEUTZ-JEGHERS SYNDROME
|
| Gene Symbol |
STK11
PJS
LKB1
|
| Scope Statement | Caused by mutations in the serine/threonine protein kinase 11 gene (STK11, 602216.0001) [MOLECULAR BASIS]
Spots occur in 95% of patients but can be absent [MISCELLANEOUS]
Pigmented spots appear in infancy through childhood and fade in adulthood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 175200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0031269
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |