eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sed congenita | ||||
| Disease ID | 1982 |
|---|---|
| Disease | sed congenita |
| Synonym | (spondyloepiphyseal dysplasia) or (pseudoachondroplasia) (spondyloepiphyseal dysplasia) or (pseudoachondroplasia) (disorder) sed - spondyloepiphyseal dysplasia sed, congenital type sedc - spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia congenita (disorder) spondyloepiphyseal dysplasia congenita (disorder) [ambiguous] spondyloepiphyseal dysplasia congenita group spondyloepiphyseal dysplasia congenita group (disorder) spondyloepiphyseal dysplasia, congenita spondyloepiphyseal dysplasia, congenital type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2745959 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| 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 | (Waiting for update.) |
| Disease ID | 1982 |
|---|---|
| Disease | sed congenita |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0001695 | Cardiac arrest | 1 HP:0012281 | Chylous ascites | 1 HP:0001541 | Ascites | 1 HP:0002758 | Osteoarthritis | 1 |
| Disease ID | 1982 |
|---|---|
| Disease | sed congenita |
| Manually Symptom | (Waiting for update.) |
| 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:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1982 |
|---|---|
| Disease | sed congenita |
| Case | (Waiting for update.) |