RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Peutz-Jeghers syndrome
Accession: DOID:3852
browse the term
Definition: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Synonyms: exact_synonym: Colonic hamartomatous polyp; Hamartomatous Intestinal Polyposes; Hamartomatous Intestinal Polyposis; PJS; Perioral Lentiginoses; Perioral Lentiginosis; Periorificial Lentiginosis Syndrome; Periorificial Lentiginosis Syndromes; Peutz Jegher's Syndrome; Peutz Jeghers Polyposis; Peutz Jeghers colon polyp; Peutz Jeghers polyp; Peutz-Jegher Syndrome; Peutz-Jeghers polyp of small Intestine; Polyps and Spots Syndrome; Polyps-and-Spots Syndromes; gastric Peutz-Jeghers polyp; peutz-jeghers small bowel hamartoma
primary_id: MESH:D010580 ; RDO:0006334
alt_id: OMIM:175200
xref: GARD:7378 ; NCI:C3324 ; NCI:C4733 ; NCI:C7755 ; ORDO:2869
For additional species annotation, visit the
Alliance of Genome Resources .
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Abca7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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Arhgap45
Rho GTPase activating protein 45
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296
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Arid3a
AT-rich interaction domain 3A
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,573,604...12,602,407
Ensembl chr 7:12,574,198...12,601,674
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Cbarp
CACN subunit beta associated regulatory protein
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
NCBI chr 7:12,433,422...12,441,048
Ensembl chr 7:12,433,933...12,441,048
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Cfd
complement factor D
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
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Cnn2
calponin 2
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,782,459...12,787,977
Ensembl chr 7:12,782,491...12,787,750
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Defa5
defensin alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17934846
NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
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Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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Gpx4
glutathione peroxidase 4
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
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Grin3b
glutamate ionotropic receptor NMDA type subunit 3B
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,764,993...12,771,310
Ensembl chr 7:12,764,993...12,771,310
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
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Med16
mediator complex subunit 16
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,619,739...12,632,241
Ensembl chr 7:12,542,713...12,632,298
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Polr2e
RNA polymerase II, I and III subunit E
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791
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R3hdm4
R3H domain containing 4
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,611,476...12,618,586
Ensembl chr 7:12,611,468...12,618,586
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Sbno2
strawberry notch homolog 2
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,471,805...12,515,700
Ensembl chr 7:12,471,824...12,518,654
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:175200
ClinVar CTD OMIM
PMID:9399902 PMID:9425897 PMID:9428765 PMID:9731485 PMID:9760200 PMID:9809980 PMID:9837816 PMID:9850045 PMID:9887330 PMID:9934767 PMID:10208439 PMID:10217080 PMID:10353780 PMID:10362809 PMID:10408777 PMID:10429655 PMID:10441497 PMID:10623683 PMID:10676634 PMID:10780518 PMID:10874301 PMID:11103790 PMID:11297520 PMID:11389158 PMID:11430832 PMID:12112668 PMID:12372054 PMID:12533684 PMID:12552571 PMID:12865922 PMID:14517248 PMID:14623934 PMID:14970844 PMID:14976552 PMID:15121768 PMID:15188174 PMID:15200509 PMID:15398245 PMID:15608654 PMID:15617552 PMID:15800014 PMID:15863673 PMID:15987703 PMID:16110486 PMID:16287113 PMID:16407375 PMID:16407837 PMID:16582077 PMID:16648371 PMID:16707622 PMID:17010210 PMID:17026623 PMID:17319781 PMID:17404884 PMID:17637250 PMID:17676035 PMID:17711506 PMID:17924967 PMID:18321849 PMID:18594528 PMID:18854309 PMID:18854318 PMID:19145097 PMID:19340305 PMID:19727776 PMID:19892943 PMID:20082862 PMID:20223037 PMID:20393878 PMID:20435009 PMID:20559149 PMID:20623358 PMID:20722467 PMID:21118512 PMID:21189378 PMID:21191700 PMID:21411391 PMID:21520333 PMID:21816872 PMID:22382802 PMID:22543132 PMID:22679258 PMID:22775437 PMID:22942091 PMID:23240097 PMID:23399955 PMID:23415580 PMID:23515270 PMID:23555315 PMID:23584481 PMID:23612973 PMID:23639312 PMID:23672593 PMID:23718779 PMID:23893923 PMID:23993471 PMID:24033266 PMID:24037887 PMID:24260271 PMID:24307375 PMID:24468202 PMID:24604241 PMID:24652667 PMID:24728327 PMID:24793789 PMID:24830819 PMID:24857785 PMID:25117502 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25186949 PMID:25226294 PMID:25303977 PMID:25326637 PMID:25343854 PMID:25452441 PMID:25473901 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25742471 PMID:25841653 PMID:25980754 PMID:26010451 PMID:26056085 PMID:26080840 PMID:26123645 PMID:26164066 PMID:26225618 PMID:26295973 PMID:26319365 PMID:26354930 PMID:26386697 PMID:26430231 PMID:26467025 PMID:26517685 PMID:26580448 PMID:26607058 PMID:26692440 PMID:26837502 PMID:26845104 PMID:26887594 PMID:26898890 PMID:26928227 PMID:26976419 PMID:26979979 PMID:27043212 PMID:27081308 PMID:27153395 PMID:27300552 PMID:27311873 PMID:27443514 PMID:27550049 PMID:27615706 PMID:27621404 PMID:27696107 PMID:27821076 PMID:27852271 PMID:27978560 PMID:28135145 PMID:28152038 PMID:28185117 PMID:28196074 PMID:28199989 PMID:28202063 PMID:28231849 PMID:28303455 PMID:28492532 PMID:28521409 PMID:28560011 PMID:28577310 PMID:28640387 PMID:28724667 PMID:28767289 PMID:28821472 PMID:28873162 PMID:28944238 PMID:28977883 PMID:29325035 PMID:29338689 PMID:29368341 PMID:29458332 PMID:29470806 PMID:29496690 PMID:29641532 PMID:29785153 PMID:29973652 PMID:30092773 PMID:30093976 PMID:30287823 PMID:30306255 PMID:30334930 PMID:30374176 PMID:30455982 PMID:30528796 PMID:30982232 PMID:31159747 PMID:31269945 PMID:31422818 PMID:31592449 PMID:31775759 PMID:31871109 PMID:32566746 , PMID:14511394
RGD:1600691
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
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Tmem259
transmembrane protein 259
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,771,239...12,777,901
Ensembl chr 7:12,771,227...12,779,862
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Wdr18
WD repeat domain 18
ISO
ClinVar Annotator: match by term: Peutz-Jeghers syndrome
ClinVar
PMID:14970844 PMID:16287113 PMID:16648371 PMID:17924967 PMID:20623358 PMID:21118512 PMID:22382802 PMID:23399955 PMID:27550049 PMID:28303455 PMID:28492532
NCBI chr 7:12,561,318...12,569,120
Ensembl chr 7:12,561,324...12,569,143
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