eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bullous pemphigoid | ||||
| Disease ID | 67 |
|---|---|
| Disease | bullous pemphigoid |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:31) C2697424 | gastric cancer C2364072 | depression C2240374 | eosinophilia C1370701 | clear cell hidradenoma C1321589 | hemophilia C1096116 | acquired hemophilia C1095999 | trichophytic granuloma C0743086 | granulomatous dermatitis C0684249 | lung cancer C0406653 | eosinophilic spongiosis C0406352 | acanthosis palmaris C0393639 | autoimmune encephalopathy C0341012 | oral herpes simplex infection C0240805 | prodrome C0206698 | cholangiocarcinoma C0085437 | bacterial meningitis C0085106 | hailey-hailey disease C0037284 | skin lesions C0036161 | o variant C0032633 | pompholyx C0032586 | polyradiculopathy C0030809 | pemphigus vulgaris C0030804 | cicatricial pemphigoid C0029166 | oral manifestation C0027765 | neurological disorders C0027697 | nephritis C0019348 | herpes simplex virus infection C0019080 | hemorrhage C0017665 | membranous glomerulonephritis C0011849 | diabetes mellitus C0011608 | dermatitis herpetiformis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0027765 | neurological disorders | 3 C0242379 | lung cancer | 3 C1096116 | acquired hemophilia | 2 C0019069 | hemophilia | 2 C0037284 | skin lesions | 1 C0014457 | eosinophilia | 1 C0011849 | diabetes mellitus | 1 C0011608 | dermatitis herpetiformis | 1 C0037284 | skin lesion | 1 |
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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
| HP:0008066 | Abnormal blistering of the skin | 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 |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003765 | Psoriasis | MP:0009967 | abnormal neuron proliferation | any anomaly in the ability of a neuron to undergo rapid expansion by cell division |
| 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:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001025 | Urticaria | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0008066 | Abnormal blistering of the skin | 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 |
| Disease ID | 67 |
|---|---|
| Disease | bullous pemphigoid |
| Case | (Waiting for update.) |