eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| babesiosis | ||||
| Disease ID | 337 |
|---|---|
| Disease | babesiosis |
| Definition | A group of tick-borne diseases of mammals including ZOONOSES in humans. They are caused by protozoa of the genus BABESIA, which parasitize erythrocytes, producing hemolysis. In the U.S., the organism's natural host is mice and transmission is by the deer tick IXODES SCAPULARIS. |
| Synonym | babesia infection babesia parasite infection babesia parasite infections babesiases babesiasis babesioses babesiosis (disorder) babesiosis [disease/finding] infection by babesia infection by babesia (disorder) infection by babesia, nos infection, babesia parasite infections, babesia parasite piroplasmoses piroplasmosis |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0004576 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0040034 | thrombocytopenia | 2 C0004576 | babesiosis | 1 C0037280 | infestation | 1 C0002878 | hemolytic anemia | 1 C0002797 | anaplasmosis | 1 C0002871 | anaemia | 1 C0024198 | lyme disease | 1 C0024141 | systemic lupus erythematosus | 1 C0035078 | renal failure | 1 C0012739 | consumptive coagulopathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:47) 31 | ACACA | 2.176 | DISEASES 340351 | AGBL3 | 2.161 | DISEASES 22977 | AKR7A3 | 2.837 | DISEASES 765 | CA6 | 1.425 | DISEASES 811 | CALR | 1.999 | DISEASES 914 | CD2 | 1.071 | DISEASES 959 | CD40LG | 2.751 | DISEASES 974 | CD79B | 1.214 | DISEASES 23436 | CELA3B | 1.208 | DISEASES 9859 | CEP170 | 2.462 | DISEASES 8813 | DPM1 | 1.093 | DISEASES 255324 | EPGN | 1.485 | DISEASES 149371 | EXOC8 | 3.113 | DISEASES 2152 | F3 | 1.352 | DISEASES 2224 | FDPS | 1.177 | DISEASES 9464 | HAND2 | 1.117 | DISEASES 84072 | HORMAD1 | 2.581 | DISEASES 3240 | HP | 2.22 | DISEASES 3586 | IL10 | 1.337 | DISEASES 3664 | IRF6 | 2.092 | DISEASES 9622 | KLK4 | 1.772 | DISEASES 3980 | LIG3 | 2.034 | DISEASES 149998 | LIPI | 2.575 | DISEASES 4043 | LRPAP1 | 3.819 | DISEASES 4105 | MAGEA6 | 2.466 | DISEASES 92399 | MRRF | 2.093 | DISEASES 4513 | MT-CO2 | 1.406 | DISEASES 4519 | MT-CYB | 3.468 | DISEASES 246734 | NPCDR1 | 4.005 | DISEASES 10215 | OLIG2 | 1.16 | DISEASES 54681 | P4HTM | 2.014 | DISEASES 9159 | PCSK7 | 1.782 | DISEASES 5277 | PIGA | 1.028 | DISEASES 93183 | PIGM | 2.792 | DISEASES 284098 | PIGW | 3.189 | DISEASES 5478 | PPIA | 1.073 | DISEASES 135250 | RAET1E | 1.878 | DISEASES 5906 | RAP1A | 4.585 | DISEASES 29935 | RPA4 | 3.97 | DISEASES 6181 | RPLP2 | 2.012 | DISEASES 6202 | RPS8 | 4.224 | DISEASES 79048 | SECISBP2 | 2.322 | DISEASES 462 | SERPINC1 | 1.452 | DISEASES 140885 | SIRPA | 1.358 | DISEASES 4990 | SIX6 | 1.802 | DISEASES 27286 | SRPX2 | 1.418 | DISEASES 7137 | TNNI3 | 1.701 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 337 |
|---|---|
| Disease | babesiosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0012378 | Fatigue HP:0001376 | Limitation of joint mobility HP:0000083 | Renal insufficiency HP:0001635 | Congestive heart failure HP:0002829 | Arthralgia HP:0003326 | Myalgia HP:0001873 | Thrombocytopenia HP:0001882 | Leukopenia HP:0001289 | Confusion HP:0002017 | Nausea and vomiting HP:0100776 | Recurrent pharyngitis HP:0000952 | Jaundice HP:0100724 | Hypercoagulability HP:0002719 | Recurrent infections HP:0001878 | Hemolytic anemia HP:0001864 | Clinodactyly of the 5th toe HP:0000975 | Hyperhidrosis HP:0002093 | Respiratory insufficiency HP:0001658 | Myocardial infarction HP:0001399 | Hepatic failure HP:0004936 | Venous thrombosis HP:0001259 | Coma HP:0001945 | Fever HP:0002240 | Hepatomegaly HP:0012735 | Cough HP:0001744 | Splenomegaly HP:0005521 | Disseminated intravascular coagulation HP:0000613 | Photophobia HP:0000716 | Depression HP:0002039 | Anorexia HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0001945 | Fever | 2 HP:0012223 | Ruptured spleen | 2 HP:0001873 | Low platelet count | 2 HP:0002725 | Systemic lupus erythematosus | 1 HP:0002960 | Autoimmune condition | 1 HP:0001903 | Anemia | 1 HP:0001878 | Haemolytic anaemia | 1 HP:0000083 | Renal insufficiency | 1 |
| Disease ID | 337 |
|---|---|
| Disease | babesiosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) C2707258 | infections C1963164 | lymphopenia C1963154 | renal failure C1963124 | hemoglobinuria C1000483 | anemia C0948600 | organ failure C0730288 | nerve fiber layer infarct C0242723 | parasitemia C0035222 | adult respiratory distress syndrome C0024291 | haemophagocytic syndrome C0024282 | lymphocytosis C0015970 | fever of unknown origin (fuo) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0005521 | Disseminated intravascular coagulation | MP:0002551 | abnormal blood coagulation | altered ability or inability of the blood to clot |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
| 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 |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| 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: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:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0100724 | Hypercoagulability | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000975 | Hyperhidrosis | 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:0001882 | Leukopenia | 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:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005521 | Disseminated intravascular coagulation | MP:0011380 | enlarged brain ventricles | increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord |
| 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: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:0001864 | Clinodactyly of the 5th toe | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001289 | Confusion | 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:0002719 | Recurrent infections | 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:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100776 | Recurrent pharyngitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| Disease ID | 337 |
|---|---|
| Disease | babesiosis |
| Case | (Waiting for update.) |