eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| peutz-jeghers syndrome | ||||
| Disease ID | 45 |
|---|---|
| Disease | peutz-jeghers syndrome |
| 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. |
| Synonym | hamartomatous intestinal polyposes hamartomatous intestinal polyposis intestinal polyposes, hamartomatous intestinal polyposis, hamartomatous intestinal polyposis-cutaneous pigmentation syndrome jeghers-peutz syndrome lentiginoses, perioral lentiginosis, perioral perioral lentiginoses perioral lentiginosis periorificial lentiginosis syndrome periorificial lentiginosis syndromes peutz jegher syndrome peutz jegher's syndrome peutz jeghers polyposis peutz jeghers syndrome peutz jeghers syndromes peutz's syndrome peutz-jegher syndrome peutz-jegher's syndrome peutz-jeghers polyposis peutz-jeghers syndrome (disorder) peutz-jeghers syndrome [disease/finding] pjs pjs - peutz-jehgers syndrome polyposes, hamartomatous intestinal polyposis, hamartomatous intestinal polyposis, intestinal, ii polyposis, peutz-jeghers polyps and spots syndrome polyps-and-spots syndrome polyps-and-spots syndromes syndrome peutz-jeghers syndrome, periorificial lentiginosis syndrome, peutz-jegher's syndrome, peutz-jeghers syndrome, polyps-and-spots syndromes, periorificial lentiginosis syndromes, polyps-and-spots |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0031269 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:27) C0021933 | intussusception | 7 C0235974 | pancreatic cancer | 3 C0018552 | hamartomatous | 3 C0001418 | adenocarcinoma | 2 C0007847 | cervical cancer | 1 C0021933 | intestinal intussusception | 1 C0541912 | duodenal ca | 1 C0206695 | neuroendocrine carcinoma | 1 C0007113 | rectal cancer | 1 C0152013 | adenocarcinoma of the lung | 1 C0007130 | mucinous adenocarcinoma | 1 C0024623 | gastric cancer | 1 C0007097 | malignant epithelial tumors | 1 C0684249 | carcinoma of the lung | 1 C0206698 | cholangiocarcinoma | 1 C0001339 | acute pancreatitis | 1 C0035334 | retinitis pigmentosa | 1 C0345893 | juvenile polyposis | 1 C0030421 | paraganglioma | 1 C0030305 | pancreatitis | 1 C0242379 | lung cancer | 1 C0007120 | bronchioloalveolar carcinoma | 1 C0302592 | cervical ca | 1 C0035335 | retinoblastoma | 1 C1546189 | duodenal carcinoma | 1 C0007130 | mucinous carcinoma | 1 C0206630 | endometrial stromal sarcoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:76) 60312 | AFAP1 | 2.361 | DISEASES 272 | AMPD3 | 2.186 | DISEASES 196527 | ANO6 | 2.15 | DISEASES 353 | APRT | 1.186 | DISEASES 369 | ARAF | 1.36 | DISEASES 22809 | ATF5 | 1.663 | DISEASES 55814 | BDP1 | 1.979 | DISEASES 672 | BRCA1 | 2.959 | DISEASES 675 | BRCA2 | 3.982 | DISEASES 1029 | CDKN2A | 2.62 | DISEASES 11200 | CHEK2 | 1.491 | DISEASES 1153 | CIRBP | 1.831 | DISEASES 148046 | CIRBP-AS1 | 4.115 | DISEASES 1499 | CTNNB1 | 2.599 | DISEASES 9266 | CYTH2 | 2.739 | DISEASES 1670 | DEFA5 | 1.603 | DISEASES 85458 | DIXDC1 | 2.228 | DISEASES 1978 | EIF4EBP1 | 1.019 | DISEASES 29924 | EPN1 | 2.498 | DISEASES 2159 | F10 | 1.913 | DISEASES 2272 | FHIT | 1.188 | DISEASES 22862 | FNDC3A | 1.632 | DISEASES 2535 | FZD2 | 1.469 | DISEASES 2558 | GABRA5 | 1.704 | DISEASES 2567 | GABRG3 | 2.157 | DISEASES 2778 | GNAS | 1.527 | DISEASES 8519 | IFITM1 | 2.363 | DISEASES 8861 | LDB1 | 1.502 | DISEASES 116372 | LYPD1 | 2.979 | DISEASES 10046 | MAMLD1 | 1.582 | DISEASES 4139 | MARK1 | 2.001 | DISEASES 2011 | MARK2 | 2.042 | DISEASES 4140 | MARK3 | 2.12 | DISEASES 4168 | MCF2 | 1.163 | DISEASES 4212 | MEIS2 | 1.901 | DISEASES 4221 | MEN1 | 1.86 | DISEASES 64223 | MLST8 | 1.356 | DISEASES 2475 | MTOR | 2.686 | DISEASES 4588 | MUC6 | 3.106 | DISEASES 4595 | MUTYH | 4.328 | DISEASES 4739 | NEDD9 | 1.002 | DISEASES 4751 | NEK2 | 1.289 | DISEASES 4763 | NF1 | 1.202 | DISEASES 204801 | NLRP11 | 2.873 | DISEASES 126206 | NLRP5 | 2.392 | DISEASES 23022 | PALLD | 1.469 | DISEASES 56288 | PARD3 | 1.493 | DISEASES 5378 | PMS1 | 3.482 | DISEASES 139728 | PNCK | 1.179 | DISEASES 5563 | PRKAA2 | 1.819 | DISEASES 5573 | PRKAR1A | 3.166 | DISEASES 136541 | PRSS58 | 2.215 | DISEASES 5727 | PTCH1 | 1.562 | DISEASES 5728 | PTEN | 4.381 | DISEASES 5743 | PTGS2 | 1.563 | DISEASES 5794 | PTPRH | 3.756 | DISEASES 5889 | RAD51C | 1.089 | DISEASES 5892 | RAD51D | 1.507 | DISEASES 10181 | RBM5 | 1.866 | DISEASES 55599 | RNPC3 | 2.817 | DISEASES 6196 | RPS6KA2 | 1.076 | DISEASES 23328 | SASH1 | 1.899 | DISEASES 22904 | SBNO2 | 3.941 | DISEASES 9748 | SLK | 1.506 | DISEASES 4089 | SMAD4 | 3.496 | DISEASES 6597 | SMARCA4 | 1.422 | DISEASES 6794 | STK11 | 7.9 | DISEASES 8428 | STK24 | 2.277 | DISEASES 92335 | STRADA | 4.723 | DISEASES 50945 | TBX22 | 1.443 | DISEASES 79155 | TNIP2 | 2.356 | DISEASES 7332 | UBE2L3 | 1.592 | DISEASES 11180 | WDR6 | 3.587 | DISEASES 7481 | WNT11 | 1.436 | DISEASES 7516 | XRCC2 | 3.007 | DISEASES 55311 | ZNF444 | 3.044 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) STK11 | 19p13.3 |
| Disease ID | 45 |
|---|---|
| Disease | peutz-jeghers syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0005562 | Multiple renal cysts HP:0002239 | Gastrointestinal hemorrhage HP:0012733 | Macule HP:0001003 | Multiple lentigines HP:0002013 | Vomiting HP:0100574 | Biliary tract neoplasm HP:0100833 | Neoplasm of the small intestine HP:0002027 | Abdominal pain HP:0000366 | Abnormality of the nose HP:0002035 | Rectal prolapse HP:0005214 | Intestinal obstruction HP:0002672 | Gastrointestinal carcinoma HP:0100526 | Neoplasm of the lung HP:0005584 | Renal cell carcinoma HP:0030079 | Cervix cancer HP:0100669 | Abnormal pigmentation of the oral mucosa HP:0000069 | Abnormality of the ureter HP:0006725 | Pancreatic adenocarcinoma HP:0001903 | Anemia HP:0100743 | Neoplasm of the rectum HP:0002664 | Neoplasm HP:0100582 | Nasal polyposis HP:0012126 | Stomach cancer HP:0100273 | Neoplasm of the colon HP:0005264 | Abnormality of the gallbladder HP:0008675 | Enlarged polycystic ovaries HP:0100751 | Esophageal neoplasm HP:0005244 | Gastrointestinal infarctions HP:0012720 | Neoplasm of the nose HP:0100644 | Melanonychia HP:0002086 | Abnormality of the respiratory system HP:0011024 | Abnormality of the gastrointestinal tract HP:0003002 | Breast carcinoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0002576 | Intussusception | 7 HP:0002664 | Neoplasia | 4 HP:0002894 | Neoplasia of the pancreas | 3 HP:0004390 | Hamartomatous polyps | 3 HP:0030731 | Carcinoma | 2 HP:0100570 | Carcinoid tumor | 1 HP:0012126 | Gastric cancer | 1 HP:0030153 | Cholangiocarcinoma | 1 HP:0009919 | Retinoblastoma | 1 HP:0005266 | Intestinal polyp | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0001735 | Acute pancreatitis | 1 HP:0001744 | Splenomegaly | 1 HP:0002668 | Paragangliomas | 1 HP:0001733 | Pancreatic inflammation | 1 |
| Disease ID | 45 |
|---|---|
| Disease | peutz-jeghers syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:46) C1608408 | malignant transformation C1519276 | ovarian sex cord tumor with annular tubules C1449720 | pubertal gynecomastia C1412036 | anal squamous cell carcinoma C1272765 | adenoma malignum C1257915 | intestinal polyposis C0948209 | intestinal adenocarcinoma C0699791 | gastric carcinoma C0699791 | carcinoma of the stomach C0699790 | colonic carcinoma C0685938 | gastrointestinal cancer C0678222 | breast cancer C0586737 | bladder polyps C0581359 | acute intestinal obstruction C0541912 | duodenal cancer C0426517 | oral pigmentation C0376293 | stigmata C0347271 | jejunal polyp C0346647 | pancreatic cancers C0341215 | gastroduodenal intussusception C0340708 | deep vein thrombosis C0334404 | sex cord tumor with annular tubules C0334108 | polyposis C0334092 | hamartomatous polyps C0334092 | hamartomatous polyp C0302592 | cervical cancer C0281361 | pancreatic adenocarcinoma C0279672 | adenocarcinoma of the cervix C0278804 | duodenal adenocarcinoma C0278803 | small intestinal adenocarcinoma C0278803 | adenocarcinoma of the small intestine C0267834 | hepatic cyst C0238337 | pancreatic cystadenocarcinoma C0236048 | gastric polyp C0235329 | small bowel obstruction C0221391 | melanosis C0151544 | gastrointestinal carcinoma C0040053 | thrombosis C0036769 | sertoli cell tumor C0023321 | lentigines C0021933 | intussusceptions C0021933 | intussusception C0021843 | intestinal obstruction C0018552 | hamartomas C0014335 | enteritis C0001418 | adenocarcinoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0021933 | intussusception | 7 C0025209 | melanosis | 2 C0001418 | adenocarcinoma | 2 C0023321 | lentigines | 2 C0334092 | hamartomatous polyp | 2 C0347271 | jejunal polyp | 1 C1519276 | ovarian sex cord tumor with annular tubules | 1 C0007847 | cervical cancer | 1 C0334404 | sex cord tumor with annular tubules | 1 C0334092 | hamartomatous polyps | 1 C1608408 | malignant transformation | 1 C0036769 | sertoli cell tumor | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:24) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913315 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1220488 | G | A,T |
| rs121913321 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221320 | C | - |
| rs137853075 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221237 | C | A |
| rs137853076 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1207163 | A | T |
| rs137853077 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1207113 | T | C |
| rs137853082 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1220700 | G | C |
| rs137853083 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221216 | C | G |
| rs137854584 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1207082 | G | T |
| rs397518440 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1219367 | C | - |
| rs397518441 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1207110 | - | T |
| rs398123404 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1207082 | - | G |
| rs398123405 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221963 | G | A,T |
| rs398123406 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1222984 | G | T |
| rs587776656 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221321 | G | - |
| rs587776657 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1220701 | TCGG | - |
| rs587776658 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1220372 | G | A |
| rs587776659 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221312 | TG | - |
| rs587776660 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221994 | TCCGGCAGC | - |
| rs587776661 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221977 | G | - |
| rs727504171 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221994 | T | G |
| rs727504172 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1222983 | A | T |
| rs730881976 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1220702 | C | G |
| rs786200991 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1223052 | - | G |
| rs786205864 | NA | 6794 | STK11 | umls:C0031269 | CLINVAR | NA | 0.664198424 | NA | STK11 | 19 | 1221322 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| HP:0100833 | Neoplasm of the small intestine | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0005584 | Renal cell carcinoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0000366 | Abnormality of the nose | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0100669 | Abnormal pigmentation of the oral mucosa | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002672 | Gastrointestinal carcinoma | MP:0004868 | increased endometrial carcinoma incidence | greater than the expected number of a malignant neoplasm arising from the endometrial tissue, occurring in a specific population in a given time period |
| HP:0002035 | Rectal prolapse | MP:0000493 | rectal prolapse | downward movement and external appearance of the rectum through the anus |
| HP:0003002 | Breast carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0000069 | Abnormality of the ureter | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0100273 | Neoplasm of the colon | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0100743 | Neoplasm of the rectum | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100273 | Neoplasm of the colon | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0002672 | Gastrointestinal carcinoma | MP:0013328 | visceromegaly | abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100833 | Neoplasm of the small intestine | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0012126 | Stomach cancer | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0000069 | Abnormality of the ureter | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0100574 | Biliary tract neoplasm | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0100582 | Nasal polyposis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0100669 | Abnormal pigmentation of the oral mucosa | MP:0013328 | visceromegaly | abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0005244 | Gastrointestinal infarctions | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0100751 | Esophageal neoplasm | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0002035 | Rectal prolapse | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001003 | Multiple lentigines | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0005264 | Abnormality of the gallbladder | MP:0010180 | increased susceptibility to weight loss | greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment |
| HP:0100743 | Neoplasm of the rectum | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0005584 | Renal cell carcinoma | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003002 | Breast carcinoma | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0006725 | Pancreatic adenocarcinoma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| Disease ID | 45 |
|---|---|
| Disease | peutz-jeghers syndrome |
| Case | (Waiting for update.) |