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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:An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: PJS;   Peutz Jegher's Syndrome;   Peutz Jeghers Polyposis;   Peutz Jeghers polyp;   Peutz-Jegher syndrome;   periorificial lentiginosis syndrome;   periorificial lentiginosis syndromes;   polyps and spots syndrome;   polyps-and-spots syndromes
 narrow_synonym: Hamartomatous Intestinal Polyposis;   Perioral Lentiginoses;   Perioral Lentiginosis;   Peutz Jeghers colon polyp;   Peutz-Jeghers Polyp of the Stomach;   Peutz-Jeghers polyp of small Intestine;   colonic hamartomatous polyp;   gastric Peutz-Jeghers polyp;   hamartomatous intestinal polyposes;   peutz-jeghers small bowel hamartoma
 primary_id: MESH:D010580
 alt_id: MIM:175200
 xref: EFO:1000470;   EFO:1000471;   GARD:7378;   ICD10CM:Q85.89;   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:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17934846 NCBI chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172 		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:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO
ISS		 ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome
OMIM:175200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:9399902 PMID:9425897 PMID:9428765 PMID:9536098 PMID:9731485 More... RGD:1600691 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Peutz-Jeghers syndrome ClinVar PMID:14970844 PMID:15188174 PMID:16287113 PMID:16648371 PMID:17924967 More... NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      Hereditary Neoplastic Syndromes 1345
        Peutz-Jeghers syndrome 18
Path 2
Term Annotations click to browse term
  disease 19057
    Pathological Conditions, Signs and Symptoms 13535
      Signs and Symptoms 11088
        Neurologic Manifestations 10339
          sensory system disease 7250
            skin disease 4187
              pigmentation disease 307
                Hyperpigmentation 50
                  Melanosis 40
                    Lentigo 29
                      Peutz-Jeghers syndrome 18
paths to the root