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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G ABCA7 ATP binding cassette subfamily A member 7 JBrowse link 19 1,016,829 1,042,251 RGD:9068941
G ARID3A AT-rich interaction domain 3A JBrowse link 19 904,414 948,493 RGD:9068941
G CBARP CACN subunit beta associated regulatory protein JBrowse link 19 1,212,854 1,220,108 RGD:9068941
G CFD complement factor D JBrowse link 19 830,004 831,566 RGD:9068941
G CNN2 calponin 2 JBrowse link 19 1,005,670 1,015,133 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 19 820,455 828,181 RGD:9068941
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,082,917 1,085,538 RGD:9068941
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 19 969,844 982,889 RGD:9068941
G KISS1R KISS1 receptor JBrowse link 19 889,152 891,739 RGD:9068941
G LOC100990706 rho GTPase-activating protein 45 JBrowse link 19 1,053,817 1,063,962 RGD:9068941
G LOC100991118 defensin-5 RGD:9068941
G MED16 mediator complex subunit 16 JBrowse link 19 840,896 864,857 RGD:9068941
G POLR2E RNA polymerase II subunit E JBrowse link 19 1,063,296 1,073,379 RGD:9068941
G R3HDM4 R3H domain containing 4 JBrowse link 19 868,192 874,301 RGD:9068941
G SBNO2 strawberry notch homolog 2 JBrowse link 19 1,086,385 1,161,261 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 19 1,188,537 1,210,677 RGD:7240710
RGD:9068941
G TMEM259 transmembrane protein 259 JBrowse link 19 982,808 994,481 RGD:9068941
G WDR18 WD repeat domain 18 JBrowse link 19 957,924 967,773 RGD:9068941

Term paths to the root
Path 1
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  disease 11950
    syndrome 4859
      Peutz-Jeghers syndrome 18
Path 2
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  disease 11950
    disease of anatomical entity 11608
      nervous system disease 9340
        sensory system disease 4283
          skin disease 2256
            pigmentation disease 186
              Hyperpigmentation 43
                Melanosis 34
                  Lentigo 27
                    Peutz-Jeghers syndrome 18
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.