eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| wiskott-aldrich syndrome | ||||
| Disease ID | 188 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Definition | A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common. |
| Synonym | aldrich syndrome aldrich syndrome wiskott eczema thrombocytopenia immunodeficiency syndrome eczema thromocytopenia diarrhea syndrome eczema thromocytopenia immunodeficiency syndrome eczema thromocytopenia syndrome eczema, thrombocytopenia, immunodeficiency syndrome eczema-thrombocytopenia-immunodeficiency syndrome eczema-thrombocytopenia-immunodeficiency syndromes imd2 immunodeficiency 2 immunodeficiency with eczema and thrombocytopenia immunodeficiency with thrombocytopenia and eczema syndrome, aldrich syndrome, eczema-thrombocytopenia-immunodeficiency syndrome, wiskott-aldrich syndromes, eczema-thrombocytopenia-immunodeficiency was was - wiskott-aldrich syndrome was1 wiskott aldrich syndrome wiskott syndrome wiskott-aldrich syndrome (disorder) wiskott-aldrich syndrome 1 wiskott-aldrich syndrome [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0043194 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0024299 | lymphoma | 4 C0017661 | iga nephropathy | 2 C0040034 | thrombocytopenia | 2 C2700641 | lymphoplasmacytic lymphoma | 1 C0162872 | thoracic aortic aneurysm | 1 C0024305 | non-hodgkin's lymphoma | 1 C0009319 | colitis | 1 C0019829 | hodgkin's lymphoma | 1 C0079731 | b cell lymphoma | 1 C0024305 | non-hodgkin lymphoma | 1 C0017658 | glomerulonephritis | 1 C0022658 | nephropathy | 1 C0033626 | protein deficiency | 1 C0003486 | aortic aneurysm | 1 C0003864 | arthritis | 1 C0024312 | lymphopenia | 1 C0019829 | hodgkin lymphoma | 1 C0013595 | eczema | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:91) 10006 | ABI1 | 2.526 | DISEASES 10097 | ACTR2 | 4.228 | DISEASES 100 | ADA | 2.066 | DISEASES 22852 | ANKRD26 | 1.64 | DISEASES 369 | ARAF | 2.19 | DISEASES 23545 | ATP6V0A2 | 1.166 | DISEASES 55845 | BRK1 | 2.308 | DISEASES 680 | BRS3 | 1.114 | DISEASES 722 | C4BPA | 3.558 | DISEASES 64170 | CARD9 | 1.131 | DISEASES 930 | CD19 | 2.47 | DISEASES 959 | CD40LG | 3.499 | DISEASES 961 | CD47 | 1.999 | DISEASES 921 | CD5 | 1.701 | DISEASES 10519 | CIB1 | 2.243 | DISEASES 54875 | CNTLN | 1.112 | DISEASES 1380 | CR2 | 1.479 | DISEASES 1399 | CRKL | 2.23 | DISEASES 1503 | CTPS1 | 1.586 | DISEASES 2017 | CTTN | 1.456 | DISEASES 6387 | CXCL12 | 1.231 | DISEASES 26999 | CYFIP2 | 1.662 | DISEASES 1638 | DCT | 1.076 | DISEASES 81624 | DIAPH3 | 1.639 | DISEASES 1785 | DNM2 | 1.946 | DISEASES 81704 | DOCK8 | 3.564 | DISEASES 57634 | EP400 | 1.814 | DISEASES 342184 | FMN1 | 1.013 | DISEASES 23048 | FNBP1 | 2.17 | DISEASES 50943 | FOXP3 | 2.631 | DISEASES 2534 | FYN | 2.651 | DISEASES 2623 | GATA1 | 2.575 | DISEASES 2625 | GATA3 | 1.171 | DISEASES 2650 | GCNT1 | 2.491 | DISEASES 9245 | GCNT3 | 2.133 | DISEASES 8328 | GFI1B | 1.706 | DISEASES 2885 | GRB2 | 2.407 | DISEASES 10456 | HAX1 | 2.494 | DISEASES 3561 | IL2RG | 1.365 | DISEASES 387755 | INSC | 2.336 | DISEASES 55656 | INTS8 | 2.364 | DISEASES 3702 | ITK | 1.646 | DISEASES 6453 | ITSN1 | 1.744 | DISEASES 133746 | JMY | 3.484 | DISEASES 10219 | KLRG1 | 1.555 | DISEASES 3932 | LCK | 1.128 | DISEASES 3963 | LGALS7 | 1.468 | DISEASES 3984 | LIMK1 | 1.005 | DISEASES 4065 | LY75 | 1.06 | DISEASES 4352 | MPL | 2.605 | DISEASES 4478 | MSN | 1.99 | DISEASES 4615 | MYD88 | 1.137 | DISEASES 4644 | MYO5A | 1.849 | DISEASES 23218 | NBEAL2 | 3.711 | DISEASES 4772 | NFATC1 | 1.183 | DISEASES 4773 | NFATC2 | 1.792 | DISEASES 60506 | NYX | 1.312 | DISEASES 5230 | PGK1 | 1.599 | DISEASES 5238 | PGM3 | 2.424 | DISEASES 4007 | PRICKLE3 | 3.34 | DISEASES 5688 | PSMA7 | 2.271 | DISEASES 9051 | PSTPIP1 | 2.044 | DISEASES 5781 | PTPN11 | 1.211 | DISEASES 5788 | PTPRC | 1.285 | DISEASES 9939 | RBM8A | 1.447 | DISEASES 6097 | RORC | 1.822 | DISEASES 4068 | SH2D1A | 1.559 | DISEASES 6520 | SLC3A2 | 1.486 | DISEASES 6693 | SPN | 5.152 | DISEASES 6714 | SRC | 1.965 | DISEASES 6772 | STAT1 | 1 | DISEASES 6839 | SUV39H1 | 1.079 | DISEASES 4943 | TBC1D25 | 4.6 | DISEASES 6915 | TBXA2R | 1.272 | DISEASES 7041 | TGFB1I1 | 1.503 | DISEASES 7127 | TNFAIP2 | 1.617 | DISEASES 9322 | TRIP10 | 3.158 | DISEASES 7317 | UBA1 | 1.371 | DISEASES 51699 | VPS29 | 2.172 | DISEASES 26276 | VPS33B | 1.693 | DISEASES 6944 | VPS72 | 2.092 | DISEASES 7454 | WAS | 8.332 | DISEASES 8936 | WASF1 | 2.459 | DISEASES 10163 | WASF2 | 3.806 | DISEASES 10810 | WASF3 | 3.11 | DISEASES 11169 | WDHD1 | 1.521 | DISEASES 23038 | WDTC1 | 1.077 | DISEASES 7456 | WIPF1 | 5.627 | DISEASES 147179 | WIPF2 | 3.302 | DISEASES 644150 | WIPF3 | 3.255 | DISEASES 347344 | ZNF81 | 3.414 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 188 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:61) HP:0001025 | Urticaria HP:0011875 | Abnormal platelet morphology HP:0002094 | Dyspnea HP:0005558 | Chronic leukemia HP:0012378 | Fatigue HP:0000246 | Sinusitis HP:0006535 | Recurrent intrapulmonary hemorrhage HP:0006510 | Chronic obstructive pulmonary disease HP:0000978 | Bruising susceptibility HP:0002960 | Autoimmunity HP:0002037 | Inflammation of the large intestine HP:0001287 | Meningitis HP:0002573 | Hematochezia HP:0100806 | Sepsis HP:0002205 | Recurrent respiratory infections HP:0000967 | Petechiae HP:0100820 | Glomerulopathy HP:0001873 | Thrombocytopenia HP:0005537 | Small platelet size HP:0003010 | Prolonged bleeding time HP:0009830 | Peripheral neuropathy HP:0002248 | Hematemesis HP:0002028 | Chronic diarrhea HP:0000112 | Nephropathy HP:0001888 | Lymphopenia HP:0100774 | Hyperostosis HP:0000778 | Hypoplasia of the thymus HP:0002573 | Bloody diarrhea HP:0000140 | Abnormality of the menstrual cycle HP:0000979 | Purpura HP:0011029 | Internal hemorrhage HP:0200042 | Skin ulcer HP:0001879 | Abnormality of eosinophils HP:0001903 | Anemia HP:0001878 | Hemolytic anemia HP:0002664 | Neoplasia HP:0000388 | Otitis media HP:0002633 | Vasculitis HP:0002664 | Neoplasm HP:0002665 | Lymphoma HP:0007420 | Spontaneous hematomas HP:0000225 | Gingival bleeding HP:0011675 | Arrhythmia HP:0000389 | Chronic otitis media HP:0000498 | Blepharitis HP:0001945 | Fever HP:0000491 | Keratitis HP:0001875 | Neutropenia HP:0001873 | Low platelet count HP:0000421 | Epistaxis HP:0001645 | Sudden cardiac death HP:0002721 | Immunodeficiency HP:0001369 | Arthritis HP:0002488 | Acute leukemia HP:0100749 | Chest pain HP:0001328 | Specific learning disability HP:0000509 | Conjunctivitis HP:0000964 | Eczema HP:0002170 | Intracranial hemorrhage HP:0001935 | Microcytic anemia HP:0011869 | Abnormal platelet function |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0002665 | Lymphoma | 4 HP:0002960 | Autoimmune condition | 2 HP:0001873 | Low platelet count | 2 HP:0012189 | Hodgkin disease | 2 HP:0000099 | Glomerular nephritis | 1 HP:0000964 | Eczema | 1 HP:0012727 | Thoracic aortic aneurysm | 1 HP:0001888 | Lymphocytopenia | 1 HP:0000112 | Nephropathy | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0012539 | Non-Hodgkin lymphoma | 1 HP:0004954 | Descending aortic aneurysm | 1 HP:0002583 | Colitis | 1 HP:0004942 | Aortic aneurysm | 1 HP:0012191 | B-cell lymphoma | 1 HP:0001369 | Arthritis | 1 |
| Disease ID | 188 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C1334680 | mediastinal seminoma C1332607 | sarcoma of the brain C1304506 | microvenular haemangioma C1136085 | monoclonal gammopathy C0850497 | immune deficiency C0566602 | primary sclerosing cholangitis C0267548 | ileocolic intussusception C0162872 | thoracic aortic aneurysms C0162872 | thoracic aortic aneurysm C0040034 | thrombocytopenia C0039263 | takayasu's arteritis C0034150 | purpura C0032305 | pneumocystis carinii pneumonia C0026691 | kawasaki disease C0024314 | lymphoproliferative disorder C0024299 | lymphomas C0024291 | haemophagocytic lymphohistiocytosis C0022568 | keratitis C0019829 | hodgkin's disease C0019348 | herpes simplex C0017661 | iga glomerulonephritis C0013595 | eczematoid dermatitis C0013595 | eczema C0009324 | ulcerative colitis C0002880 | autoimmune hemolytic anemia |
| 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs132630268 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48684407 | G | A,T |
| rs132630271 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683953 | C | A,T |
| rs146220228 | 8528199 | 7454 | WAS | umls:C0043194 | UNIPROT | WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. | 0.650317332 | 1995 | WAS | X | 48685764 | G | A |
| rs193922414 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48685583 | C | G,T |
| rs193922415 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683890 | C | T |
| rs193922416 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48688082 | - | C |
| rs587776742 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683854 | A | T |
| rs587776743 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48685773 | - | ACGAGG |
| rs587776744 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48688825 | G | - |
| rs587776745 | NA | 7454 | WAS | umls:C0043194 | CLINVAR | NA | 0.650317332 | NA | WAS | X | 48683864 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001879 | Abnormality of eosinophils | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0000388 | Otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0002037 | Inflammation of the large intestine | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0000225 | Gingival bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| HP:0002488 | Acute leukemia | MP:0005481 | increased chronic myelocytic leukemia incidence | higher than normal incidence of a heterogeneous group of myeloproliferative disorders that may evolve into acute leukemia in late stages |
| HP:0000140 | Abnormality of the menstrual cycle | 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:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
| HP:0006510 | Chronic obstructive pulmonary disease | MP:0010441 | total anomalous pulmonary venous connection | abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the s |
| HP:0003010 | Prolonged bleeding time | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0001935 | Microcytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| HP:0002028 | Chronic diarrhea | MP:0005036 | diarrhea | abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0000778 | Hypoplasia of the thymus | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
Mapped by homologous gene(Total Items:53) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002248 | Hematemesis | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0005537 | Decreased mean platelet volume | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| HP:0002028 | Chronic diarrhea | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000140 | Abnormality of the menstrual cycle | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000112 | Nephropathy | 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:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009830 | Peripheral neuropathy | 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:0000388 | Otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0002488 | Acute leukemia | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0002094 | Dyspnea | 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:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0003010 | Prolonged bleeding time | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001879 | Abnormality of eosinophils | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100774 | Hyperostosis | 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:0000967 | Petechiae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002573 | Hematochezia | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| 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:0001328 | Specific learning disability | 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:0006510 | Chronic obstructive pulmonary disease | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0000246 | Sinusitis | 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:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000778 | Hypoplasia of the thymus | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000421 | Epistaxis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001935 | Microcytic anemia | 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:0000979 | Purpura | 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:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000389 | Chronic otitis media | 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:0000225 | Gingival bleeding | 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:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000491 | Keratitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0007420 | Spontaneous hematomas | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| Disease ID | 188 |
|---|---|
| Disease | wiskott-aldrich syndrome |
| Case | (Waiting for update.) |