ONTOLOGY REPORT - ANNOTATIONS
Term: Peutz-Jeghers syndrome
Accession: DOID:3852
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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 .
G
Abca7
ATP binding cassette subfamily A member 7
7
12,742,433
12,762,423
RGD:8554872
G
Arhgap45
Rho GTPase activating protein 45
7
12,541,032
12,741,314
RGD:8554872
G
Arid3a
AT-rich interaction domain 3A
7
12,573,604
12,602,407
RGD:8554872
G
Cbarp
CACN subunit beta associated regulatory protein
7
12,433,422
12,441,048
RGD:8554872
G
Cfd
complement factor D
7
12,634,216
12,635,939
RGD:8554872
G
Cnn2
calponin 2
7
12,782,459
12,787,977
RGD:8554872
G
Defa5
defensin alpha 5
16
75,338,050
75,340,401
RGD:11554173
G
Elane
elastase, neutrophil expressed
7
12,638,320
12,640,168
RGD:8554872
G
Gpx4
glutathione peroxidase 4
7
12,516,357
12,519,154
RGD:8554872
G
Grin3b
glutamate ionotropic receptor NMDA type subunit 3B
7
12,764,993
12,771,310
RGD:8554872
G
Kiss1r
KISS1 receptor
7
12,606,210
12,609,868
RGD:8554872
G
Med16
mediator complex subunit 16
7
12,619,739
12,632,241
RGD:8554872
G
Polr2e
RNA polymerase II subunit E
7
12,532,785
12,536,797
RGD:8554872
G
R3hdm4
R3H domain containing 4
7
12,611,476
12,618,586
RGD:8554872
G
Sbno2
strawberry notch homolog 2
7
12,471,805
12,515,700
RGD:8554872
G
Stk11
serine/threonine kinase 11
7
12,440,751
12,457,513
RGD:1600691 RGD:8554872 RGD:11554173 RGD:7240710
G
Tmem259
transmembrane protein 259
7
12,771,239
12,777,901
RGD:8554872
G
Wdr18
WD repeat domain 18
7
12,561,318
12,569,120
RGD:8554872
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