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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
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Accession:DOID:3852 term browser 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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Peutz-Jeghers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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:9429144, 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:11212897, 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:20051941, PMID:20082862, PMID:20223037, PMID:20393878, PMID:20435009, PMID:20559149, PMID:20581245, 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:25645574, 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:26607058, PMID:26692440, PMID:26837502, PMID:26845104, PMID:26887594, PMID:26898890, PMID:26928227, PMID:26976419, PMID:26979979, PMID:27043212, PMID:27081308, PMID:27153395, 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:28452373, PMID:28492532, PMID:28521409, PMID:28560011, PMID:28577310, PMID:28724667, PMID:28767289, PMID:28873162, PMID:28944238, PMID:28977883, PMID:29368341, PMID:29470806, PMID:29496690, PMID:29785153, PMID:30092773, PMID:30093976, PMID:30287823, PMID:30306255, PMID:30311386, PMID:30334930, PMID:30374176, PMID:30455982, PMID:30528796, PMID:31422818, PMID:31775759, PMID:32566746, PMID:14511394 RGD:1600691 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Peutz-Jeghers syndrome 18
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hyperpigmentation 54
                Melanosis 45
                  Lentigo 28
                    Peutz-Jeghers syndrome 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.