eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acquired epidermolysis bullosa | ||||
| Disease ID | 827 |
|---|---|
| Disease | acquired epidermolysis bullosa |
| Definition | Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction. |
| Synonym | acquired epidermolysis bullosa (disorder) acquired form of epidermolysis bullosa acquisita bullosa epidermolysis eba eba - epidermolysis bullosa acquisita epidermolysis bullosa acquisita epidermolysis bullosa acquisita [disease/finding] epidermolysis bullosa aquisita epidermolysis bullosa, acquired |
| Orphanet | |
| DOID | |
| UMLS | C0079293 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0007115 | thyroid ca | 1 C0010346 | crohn's disease | 1 C0023075 | laryngeal stenosis | 1 C0021831 | bowel disease | 1 C0021390 | inflammatory bowel disease | 1 C0021831 | enteropathy | 1 C0023067 | laryngitis | 1 C0549473 | thyroid carcinoma | 1 C0030805 | pemphigoid | 1 C0033860 | psoriasis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 488 | ATP2A2 | 1.064 | DISEASES 728 | C5AR1 | 1.415 | DISEASES 64170 | CARD9 | 1.918 | DISEASES 959 | CD40LG | 2.715 | DISEASES 1308 | COL17A1 | 5.476 | DISEASES 1282 | COL4A1 | 1.45 | DISEASES 1284 | COL4A2 | 1.874 | DISEASES 1285 | COL4A3 | 1.218 | DISEASES 1286 | COL4A4 | 1.556 | DISEASES 1287 | COL4A5 | 1.115 | DISEASES 1288 | COL4A6 | 2.061 | DISEASES 1294 | COL7A1 | 2.186 | DISEASES 2920 | CXCL2 | 1.051 | DISEASES 51428 | DDX41 | 1.588 | DISEASES 1810 | DR1 | 5.283 | DISEASES 1832 | DSP | 2.094 | DISEASES 2209 | FCGR1A | 1.789 | DISEASES 2213 | FCGR2B | 3.187 | DISEASES 2314 | FLII | 3.48 | DISEASES 3320 | HSP90AA1 | 3.148 | DISEASES 3399 | ID3 | 1.568 | DISEASES 3909 | LAMA3 | 4.938 | DISEASES 4146 | MATN1 | 2.997 | DISEASES 5339 | PLEC | 2.9 | DISEASES 5493 | PPL | 1.441 | DISEASES 51334 | PRR16 | 2.185 | DISEASES 2889 | RAPGEF1 | 1.593 | DISEASES 6280 | S100A9 | 1.046 | DISEASES 6850 | SYK | 1.586 | DISEASES 7052 | TGM2 | 1.349 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 827 |
|---|---|
| Disease | acquired epidermolysis bullosa |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0000987 | Atypical scarring of skin HP:0008404 | Nail dystrophy HP:0000819 | Diabetes mellitus HP:0002027 | Abdominal pain HP:0001056 | Milia HP:0000989 | Pruritus HP:0002037 | Inflammation of the large intestine HP:0000953 | Hyperpigmentation of the skin HP:0001595 | Abnormality of the hair HP:0008066 | Abnormal blistering of the skin |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0100280 | Morbus Crohn | 1 HP:0001602 | Laryngeal stenosis | 1 HP:0002960 | Autoimmune condition | 1 HP:0002242 | Enteropathy | 1 HP:0002015 | Swallowing difficulty | 1 HP:0003765 | Psoriasis | 1 HP:0002890 | Thyroid carcinoma | 1 |
| Disease ID | 827 |
|---|---|
| Disease | acquired epidermolysis bullosa |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001595 | Abnormality of the hair | 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:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| 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 |
| 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 |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008404 | Nail dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001056 | Milia | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002037 | Inflammation of the large intestine | MP:0013803 | increased IgG2 level | greater than normal immunoglobulin class G2 level |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000953 | Hyperpigmentation 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 |
| 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 | 827 |
|---|---|
| Disease | acquired epidermolysis bullosa |
| Case | (Waiting for update.) |