eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| werner syndrome | ||||
| Disease ID | 26 |
|---|---|
| Disease | werner syndrome |
| Definition | An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease. |
| Synonym | adult premature ageing syndrome adult premature aging syndrome adult progeria adults progeria pangeria progeria of the adult progeria, adult progeria, of adult syndrome werner syndrome, werner syndrome, werner's syndrome, werners syndromes werner syndromes werner's syndromes werners werner syndrome (disorder) werner syndrome [disease/finding] werner's syndrome werners syndrome wrn ws |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0043119 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0035305 | retinal detachment | 1 C0033300 | progeria | 1 C0023487 | promyelocytic leukemia | 1 C0023470 | myelocytic leukemia | 1 C0011849 | diabetes mellitus | 1 C0086543 | cataract | 1 C0011847 | diabetes | 1 C0271051 | macular edema | 1 C0037052 | sick sinus syndrome | 1 C0023903 | liver tumor | 1 C0040188 | tic disorders | 1 C0024440 | cystoid macular edema | 1 C0242379 | lung cancer | 1 C0023418 | leukemia | 1 C0001418 | adenocarcinoma | 1 C0043119 | werner syndrome | 1 C0281361 | pancreatic adenocarcinoma | 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:102) 270 | AMPD1 | 1.22 | DISEASES 353 | APRT | 1.073 | DISEASES 546 | ATRX | 2.913 | DISEASES 10286 | BCAS2 | 2.532 | DISEASES 641 | BLM | 5.029 | DISEASES 672 | BRCA1 | 1.926 | DISEASES 78996 | C7orf49 | 1.97 | DISEASES 286257 | C9orf142 | 2.713 | DISEASES 796 | CALCA | 1.032 | DISEASES 988 | CDC5L | 1.796 | DISEASES 23552 | CDK20 | 2.163 | DISEASES 1029 | CDKN2A | 1.239 | DISEASES 1111 | CHEK1 | 1.321 | DISEASES 63924 | CIDEC | 1.269 | DISEASES 1663 | DDX11 | 2.697 | DISEASES 1660 | DHX9 | 2.752 | DISEASES 1736 | DKC1 | 1.72 | DISEASES 1763 | DNA2 | 3.668 | DISEASES 1789 | DNMT3B | 1.046 | DISEASES 2202 | EFEMP1 | 2.418 | DISEASES 8894 | EIF2S2 | 2.52 | DISEASES 60528 | ELAC2 | 1.328 | DISEASES 2074 | ERCC6 | 2.397 | DISEASES 54932 | EXD3 | 3.476 | DISEASES 2203 | FBP1 | 1.62 | DISEASES 84893 | FBXO18 | 2.885 | DISEASES 2260 | FGFR1 | 1.798 | DISEASES 2961 | GTF2E2 | 4.008 | DISEASES 2993 | GYPA | 1.329 | DISEASES 3014 | H2AFX | 3.257 | DISEASES 8359 | HIST1H4A | 1.3 | DISEASES 8366 | HIST1H4B | 1.3 | DISEASES 8364 | HIST1H4C | 1.3 | DISEASES 8360 | HIST1H4D | 1.299 | DISEASES 8367 | HIST1H4E | 1.3 | DISEASES 8361 | HIST1H4F | 1.3 | DISEASES 8294 | HIST1H4I | 1.3 | DISEASES 8363 | HIST1H4J | 1.3 | DISEASES 8362 | HIST1H4K | 1.3 | DISEASES 8368 | HIST1H4L | 1.3 | DISEASES 8370 | HIST2H4A | 1.3 | DISEASES 554313 | HIST2H4B | 1.3 | DISEASES 121504 | HIST4H4 | 1.3 | DISEASES 4670 | HNRNPM | 1.86 | DISEASES 3486 | IGFBP3 | 1.511 | DISEASES 4000 | LMNA | 4.541 | DISEASES 259215 | LY6G6F | 3.011 | DISEASES 116372 | LYPD1 | 2.777 | DISEASES 9261 | MAPKAPK2 | 2.212 | DISEASES 4609 | MYC | 1.663 | DISEASES 79661 | NEIL1 | 2.97 | DISEASES 79840 | NHEJ1 | 3.706 | DISEASES 9924 | PAN2 | 3.48 | DISEASES 142 | PARP1 | 1.656 | DISEASES 118425 | PCAT4 | 1.148 | DISEASES 5356 | PLRG1 | 2.962 | DISEASES 5424 | POLD1 | 2.285 | DISEASES 5425 | POLD2 | 2.368 | DISEASES 353497 | POLN | 1.472 | DISEASES 9533 | POLR1C | 2.698 | DISEASES 5728 | PTEN | 1.01 | DISEASES 284119 | PTRF | 1.149 | DISEASES 29942 | PURG | 3.762 | DISEASES 5867 | RAB4A | 1.19 | DISEASES 5884 | RAD17 | 2.321 | DISEASES 5888 | RAD51 | 3.582 | DISEASES 5893 | RAD52 | 3.421 | DISEASES 25788 | RAD54B | 1.985 | DISEASES 8438 | RAD54L | 1.9 | DISEASES 5932 | RBBP8 | 1.155 | DISEASES 11030 | RBPMS | 1.895 | DISEASES 5965 | RECQL | 5.474 | DISEASES 57109 | REXO4 | 2.52 | DISEASES 6045 | RNF2 | 1.326 | DISEASES 6118 | RPA2 | 2.649 | DISEASES 6231 | RPS26 | 1.688 | DISEASES 6188 | RPS3 | 1.796 | DISEASES 23410 | SIRT3 | 1.255 | DISEASES 23408 | SIRT5 | 1.653 | DISEASES 51548 | SIRT6 | 2.029 | DISEASES 51547 | SIRT7 | 2.15 | DISEASES 6545 | SLC7A4 | 1.97 | DISEASES 677825 | SNORA44 | 2.313 | DISEASES 57522 | SRGAP1 | 2.036 | DISEASES 6832 | SUPV3L1 | 2.062 | DISEASES 6839 | SUV39H1 | 1.961 | DISEASES 140597 | TCEAL2 | 3.202 | DISEASES 80351 | TNKS2 | 1.435 | DISEASES 7150 | TOP1 | 3.357 | DISEASES 7153 | TOP2A | 1.42 | DISEASES 7155 | TOP2B | 1.337 | DISEASES 7156 | TOP3A | 4.156 | DISEASES 11277 | TREX1 | 1.776 | DISEASES 7336 | UBE2V2 | 2.087 | DISEASES 7415 | VCP | 1.665 | DISEASES 56897 | WRNIP1 | 4.721 | DISEASES 7511 | XPNPEP1 | 1.145 | DISEASES 7517 | XRCC3 | 1.107 | DISEASES 7518 | XRCC4 | 2.386 | DISEASES 7520 | XRCC5 | 3.994 | DISEASES 2547 | XRCC6 | 4.022 | DISEASES 10269 | ZMPSTE24 | 2.029 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) WRN | 8p12 |
| Disease ID | 26 |
|---|---|
| Disease | werner syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:59) HP:0002216 | Premature graying of hair HP:0002211 | White forelock HP:0002860 | Squamous cell carcinoma HP:0003777 | Pili torti HP:0000518 | Cataract HP:0012060 | Acral lentiginous melanoma HP:0004322 | Short stature HP:0001601 | Laryngomalacia HP:0100833 | Neoplasm of the small intestine HP:0100585 | Telangiectasia of the skin HP:0001533 | Slender build HP:0001838 | Rocker bottom foot HP:0007495 | Prematurely aged appearance HP:0002858 | Meningioma HP:0100659 | Abnormality of the cerebral vasculature HP:0000135 | Hypogonadism HP:0000869 | Secondary amenorrhea HP:0001635 | Congestive heart failure HP:0002672 | Gastrointestinal carcinoma HP:0100526 | Neoplasm of the lung HP:0010468 | Aplasia/Hypoplasia of the testes HP:0012056 | Cutaneous melanoma HP:0000855 | Insulin resistance HP:0007618 | Subcutaneous calcification HP:0000934 | Chondrocalcinosis HP:0000822 | Hypertension HP:0010721 | Abnormal hair whorl HP:0200042 | Skin ulcer HP:0100578 | Lipoatrophy HP:0009125 | Lipodystrophy HP:0002861 | Melanoma HP:0000962 | Hyperkeratosis HP:0005978 | Type II diabetes mellitus HP:0002664 | Neoplasm HP:0011001 | Increased bone mineral density HP:0001658 | Myocardial infarction HP:0100649 | Neoplasm of the oral cavity HP:0005268 | Spontaneous abortion HP:0001608 | Abnormality of the voice HP:0002209 | Sparse scalp hair HP:0000275 | Narrow face HP:0002621 | Atherosclerosis HP:0000939 | Osteoporosis HP:0004415 | Pulmonary artery stenosis HP:0100242 | Sarcoma HP:0009726 | Renal neoplasm HP:0007703 | Abnormality of retinal pigmentation HP:0200055 | Small hand HP:0100615 | Ovarian neoplasm HP:0002890 | Thyroid carcinoma HP:0001387 | Joint stiffness HP:0000444 | Convex nasal ridge HP:0100679 | Lack of skin elasticity HP:0000765 | Abnormality of the thorax HP:0008065 | Aplasia/Hypoplasia of the skin HP:0000144 | Decreased fertility HP:0003002 | Breast carcinoma HP:0003202 | Skeletal muscle atrophy HP:0000035 | Abnormality of the testis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002664 | Neoplasia | 2 HP:0040049 | Macular edema | 1 HP:0002896 | Liver cancer | 1 HP:0011704 | Sick sinus syndrome | 1 HP:0012722 | Heart block | 1 HP:0000541 | Detached retina | 1 HP:0000819 | Diabetes mellitus | 1 HP:0011505 | Cystoid macular edema | 1 HP:0100033 | Tic disorder | 1 HP:0006725 | Pancreatic adenocarcinoma | 1 HP:0001909 | Leukemia | 1 HP:0000518 | Cataract | 1 |
| Disease ID | 26 |
|---|---|
| Disease | werner syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C2700478 | meningioma C2697383 | osteosarcoma C1261473 | sarcoma C0856151 | fat redistribution C0431122 | atypical meningioma C0376293 | stigmata C0231341 | premature aging C0206686 | adrenocortical carcinoma C0029463 | osteosarcomas C0025286 | meningiomas C0025202 | malignant melanoma C0004153 | atherosclerosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113993961 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31141680 | G | C |
| rs121908446 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31157461 | C | T |
| rs121908447 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31147397 | C | T |
| rs121908448 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31090843 | A | T |
| rs121908448 | 10628995 | 7486 | WRN | umls:C0043119 | BeFree | Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. | 0.615040194 | 2000 | WRN | 8 | 31090843 | A | T |
| rs17847577 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31081132 | C | T |
| rs2230009 | 23523974 | 7486 | WRN | umls:C0043119 | BeFree | Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts. | 0.615040194 | 2013 | WRN | 8 | 31064419 | G | A |
| rs267607008 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31064962 | A | G |
| rs281865157 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31108591 | A | C,G |
| rs281865158 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31111705 | - | T |
| rs281865159 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31147362 | A | C |
| rs281865160 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31150358 | A | - |
| rs369158322 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31150454 | A | C,T |
| rs387906337 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31064934 | A | T |
| rs587776621 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31157463 | - | A |
| rs606231162 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN;LOC105379359 | 8 | 31154626 | AGAC | - |
| rs775802030 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31067089 | A | G |
| rs797045118 | NA | 7486 | WRN | umls:C0043119 | CLINVAR | NA | 0.615040194 | NA | WRN | 8 | 31065046 | GA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0002890 | Thyroid carcinoma | MP:0003331 | increased hepatocellular carcinoma incidence | greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period |
| HP:0002860 | Squamous cell carcinoma | MP:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
| HP:0002209 | Sparse scalp hair | MP:0011195 | increased hair follicle apoptosis | greater than expected levels of programmed cell death of cells in the epidermis from which the hair shaft develops |
| 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:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0012056 | Cutaneous melanoma | MP:0010275 | increased melanoma incidence | greater than the expected number of malignant neoplasms, derived from melanocytes and occurring in pigmented tissues, in a specific population in a given time period |
| HP:0007703 | Abnormality of retinal pigmentation | 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: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:0008065 | Aplasia/Hypoplasia of the skin | 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:0100679 | Lack of skin elasticity | 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:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001838 | Rocker bottom foot | MP:0008059 | abnormal podocyte foot process morphology | any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| 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:0000035 | Abnormality of the testis | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0002216 | Premature graying of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0004415 | Pulmonary artery stenosis | MP:0012730 | abnormal internal carotid artery morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
Mapped by homologous gene(Total Items:56) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0009125 | Lipodystrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002861 | Melanoma | 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 |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002216 | Premature graying of hair | 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:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001601 | Laryngomalacia | 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:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002209 | Sparse scalp hair | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009726 | Renal neoplasm | 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:0007618 | Subcutaneous calcification | MP:0011110 | preweaning lethality, 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 fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004415 | Pulmonary artery stenosis | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000035 | Abnormality of the testis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0012056 | Cutaneous melanoma | 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:0002211 | White forelock | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002621 | Atherosclerosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100578 | Lipoatrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0100615 | Ovarian neoplasm | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000144 | Decreased fertility | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000869 | Secondary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001533 | Slender build | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001838 | Rocker bottom foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0003777 | Pili torti | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| 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:0010721 | Abnormal hair whorl | MP:0012307 | impaired spatial learning | impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002890 | Thyroid carcinoma | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0002858 | Meningioma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005268 | Spontaneous abortion | MP:0020040 | decreased bone ossification | decrease 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 |
| Disease ID | 26 |
|---|---|
| Disease | werner syndrome |
| Case | (Waiting for update.) |