eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| erythema elevatum diutinum | ||||
| Disease ID | 672 |
|---|---|
| Disease | erythema elevatum diutinum |
| Definition | Erythema elevatum diutinum is a form of vasculitis.[1]:835 - Wikipedia Reference: https://en.wikipedia.org/wiki/erythema elevatum diutinum |
| Synonym | eed - erythema elevatum diutinum erythema elevatum diutinum (disorder) |
| Orphanet | |
| ICD10 | |
| UMLS | C0263398 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0011608 | dermatitis herpetiformis | 1 C0030489 | paraproteinemia | 1 C0206706 | verrucous carcinoma | 1 C0155161 | pseudopterygium | 1 C0034212 | pyoderma | 1 C0085652 | pyoderma gangrenosum | 1 C0011603 | dermatitis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:3) |
| Locus | (Waiting for update.) |
| Disease ID | 672 |
|---|---|
| Disease | erythema elevatum diutinum |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000988 | Skin rash HP:0002829 | Arthralgia HP:0003326 | Myalgia HP:0200029 | Vasculitis in the skin HP:0200037 | Skin vesicle HP:0200036 | Skin nodule HP:0008066 | Abnormal blistering of the skin HP:0010702 | Increased antibody level in blood |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 672 |
|---|---|
| Disease | erythema elevatum diutinum |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200029 | Vasculitis in the skin | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0010702 | Increased antibody level in blood | MP:0012336 | decreased vitamin D level | reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci |
| 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200029 | Vasculitis in the skin | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010702 | Increased antibody level in blood | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| 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 |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0200037 | Skin vesicle | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0200036 | Skin nodule | MP:0013601 | increased testis apoptosis | increase in the number of cells of the male reproductive glands undergoing programmed cell death |
| 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 | 672 |
|---|---|
| Disease | erythema elevatum diutinum |
| Case | (Waiting for update.) |