eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| malakoplakia | ||||
| Disease ID | 1860 |
|---|---|
| Disease | malakoplakia |
| Definition | The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract. |
| Synonym | malacoplakia malacoplakia [disease/finding] malacoplakia, nos malacoplakias malakaplakia malakaplakia (qualifier value) malakoplakia (disorder) malakoplakia (morphologic abnormality) malakoplakia (qualifier value) malakoplakia, nos malakoplakias |
| Orphanet | |
| UMLS | C0024525 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0010692 | cystitis | 2 C0026764 | myeloma | 1 C0027697 | nephritis | 1 C0009319 | colitis | 1 C0242647 | mucosa-associated lymphoid tissue | 1 C0007138 | urothelial carcinoma | 1 C0042075 | uropathy | 1 C0022660 | acute renal failure | 1 C0178879 | obstructive uropathy | 1 C0011991 | diarrhea | 1 C0011860 | type 2 diabetes | 1 C0011860 | type 2 diabetes mellitus | 1 C0035078 | renal failure | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1860 |
|---|---|
| Disease | malakoplakia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0000157 | Abnormality of the tongue HP:0100796 | Orchitis HP:0100577 | Urinary bladder inflammation HP:0002027 | Abdominal pain HP:0000464 | Abnormality of the neck HP:0001482 | Subcutaneous nodule HP:0011123 | Inflammatory abnormality of the skin HP:0000093 | Proteinuria HP:0002729 | Follicular hyperplasia HP:0000019 | Urinary hesitancy HP:0002014 | Diarrhea HP:0200042 | Skin ulcer HP:0000012 | Urinary urgency HP:0000790 | Hematuria HP:0000140 | Abnormality of the menstrual cycle HP:0100743 | Neoplasm of the rectum HP:0100518 | Dysuria HP:0100787 | Prostate neoplasm HP:0001945 | Fever HP:0100273 | Neoplasm of the colon HP:0012735 | Cough HP:0000988 | Skin rash HP:0001892 | Abnormal bleeding HP:0002721 | Immunodeficiency HP:0100749 | Chest pain HP:0000989 | Pruritus HP:0200034 | Papule |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0030731 | Carcinoma | 1 HP:0002583 | Colitis | 1 HP:0000123 | Nephritis | 1 HP:0001919 | Acute renal failure | 1 HP:0000083 | Renal insufficiency | 1 HP:0000010 | Frequent urinary tract infections | 1 HP:0002014 | Diarrhea | 1 |
| Disease ID | 1860 |
|---|---|
| Disease | malakoplakia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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:0000464 | Abnormality of the neck | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| 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:0002729 | Follicular hyperplasia | MP:0010945 | lung epithelium hyperplasia | overdevelopment or increased size, usually due an increased number of cells in the epithelial layer of the lung |
| 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:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000157 | Abnormality of the tongue | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| 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:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100518 | Dysuria | MP:0011414 | erythruria | passage of red colored urine |
| 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: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: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:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0100787 | Prostate neoplasm | 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:0000012 | Urinary urgency | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0000093 | Proteinuria | 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:0100796 | Orchitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002729 | Follicular hyperplasia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000790 | Hematuria | 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:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000157 | Abnormality of the tongue | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0200034 | Papule | 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:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000464 | Abnormality of the neck | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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 | 1860 |
|---|---|
| Disease | malakoplakia |
| Case | (Waiting for update.) |