eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| elastosis perforans serpiginosa | ||||
| Disease ID | 1876 |
|---|---|
| Disease | elastosis perforans serpiginosa |
| Definition | Elastosis perforans serpiginosa is a unique perforating disorder characterized by transepidermal elimination of elastic fibers and distinctive clinical lesions, which are serpiginous in distribution and can be associated with specific diseases.[1][2] - Wikipedia Reference: https://en.wikipedia.org/wiki/elastosis perforans serpiginosa |
| Synonym | elastoma intrapapillare perforans verruciformis elastosis perforans elastosis perforans serpiginosa (disorder) keratosis follicularis serpiginosa lutz-miescher disease miescher elastoma miescher's elastoma perforating elastoma perforating elastosis perforating serpiginous elastosis |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0221271 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0009782 | connective tissue disorder | 1 C0036262 | scabies | 1 C0009782 | connective tissue disorders | 1 C0004943 | behcet disease | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1876 |
|---|---|
| Disease | elastosis perforans serpiginosa |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0003764 | Naevus |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1876 |
|---|---|
| Disease | elastosis perforans serpiginosa |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0003496 | aortic rupture |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003764 | Nevus | 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 |
| Disease ID | 1876 |
|---|---|
| Disease | elastosis perforans serpiginosa |
| Case | (Waiting for update.) |