eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| typhoid | ||||
| Disease ID | 161 |
|---|---|
| Disease | typhoid |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2364133 | infection C2203646 | jaundice C1546533 | abscess C0877549 | pulmonary suppuration C0850705 | acquired toxoplasmosis C0543697 | mixed cryoglobulinemia C0267842 | acute acalculous cholecystitis C0267373 | intestinal hemorrhage C0267373 | intestinal haemorrhage C0151664 | gastrointestinal perforation C0085435 | reactive arthritis C0040409 | tongue diseases C0040034 | thrombocytopenia C0033975 | psychosis C0033922 | psychomotor disorders C0033626 | protein deficiency C0031154 | peritonitis C0026848 | myopathy C0021845 | intestinal perforations C0021845 | intestinal perforation C0017181 | gastrointestinal hemorrhage C0013447 | ear diseases |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:15) C0009450 | infection | 15 C0021845 | intestinal perforation | 3 C0031154 | peritonitis | 2 C0022346 | jaundice | 1 C0272412 | splenic abscess | 1 C0267373 | intestinal haemorrhage | 1 C0267373 | intestinal bleeding | 1 C0011991 | diarrhea | 1 C0002871 | anemia | 1 C0040034 | thrombocytopenia | 1 C0000833 | abscess | 1 C0027059 | myocarditis | 1 C0007758 | cerebellar ataxia | 1 C1328486 | calculous cholecystitis | 1 C0033975 | psychosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1800610 | 17503085 | 7124 | TNF | umls:C0041466 | GAD | [A TNF region haplotype offers protection from typhoid fever in Vietnamese patients.] | 0.008544182 | 2007 | TNF | 6 | 31576050 | G | A |
| rs4646205 | 20233062 | 1080 | CFTR | umls:C0041466 | GAD | [Distribution of CFTR variations in an Indonesian enteric fever cohort.] | 0.005276948 | 2010 | CFTR | 7 | 117548607 | TG | - |
| rs4986790 | 21612766 | 7099 | TLR4 | umls:C0041466 | BeFree | Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and typhoid susceptibility in Asian Malay population in Malaysia. | 0.003181358 | 2011 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 21612766 | 7099 | TLR4 | umls:C0041466 | BeFree | Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and typhoid susceptibility in Asian Malay population in Malaysia. | 0.003181358 | 2011 | TLR4 | 9 | 117713324 | C | T |
| rs7765379 | 25383971 | 3133 | HLA-E | umls:C0041466 | BeFree | Imputation-based fine-mapping across the extended MHC region showed that the classical HLA-DRB1*04:05 allele (OR = 0.14, P = 2.60 × 10(-11)) could entirely explain the association at rs7765379, thus implicating HLA-DRB1 as a major contributor to resistance against enteric fever, presumably through antigen presentation. | 0.000542884 | 2014 | NA | 6 | 32713151 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
Mapped by homologous gene(Total Items:26) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001259 | Coma | 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:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001695 | Cardiac arrest | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002383 | Encephalitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100785 | Insomnia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000421 | Epistaxis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0002019 | Constipation | 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:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 161 |
|---|---|
| Disease | typhoid |
| Case | (Waiting for update.) |