eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epidermolysis bullosa simplex with muscular dystrophy | ||||
| Disease ID | 1576 |
|---|---|
| Disease | epidermolysis bullosa simplex with muscular dystrophy |
| Synonym | ebsmd epidermolysa bullosa simplex and limb girdle muscular dystrophy epidermolysis bullosa simplex and limb-girdle muscular dystrophy md-ebs mdebs |
| Orphanet | |
| OMIM | |
| UMLS | C2931072 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) PLEC | 8q24.3 |
| Disease ID | 1576 |
|---|---|
| Disease | epidermolysis bullosa simplex with muscular dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1576 |
|---|---|
| Disease | epidermolysis bullosa simplex with muscular dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0007193 | dilated cardiomyopathy |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1576 |
|---|---|
| Disease | epidermolysis bullosa simplex with muscular dystrophy |
| Case | (Waiting for update.) |