eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| truncus arteriosus | ||||
| Disease ID | 658 |
|---|---|
| Disease | truncus arteriosus |
| Definition | The arterial trunk arising from the fetal heart. During development, it divides into AORTA and the PULMONARY ARTERY. |
| Synonym | arteriosus, truncus common arterial trunk structure of truncus arteriosus of fetus structure of truncus arteriosus of fetus (body structure) structure of truncus arteriosus of foetus truncus arteriosus of fetus truncus arteriosus of foetus |
| Orphanet | |
| ICD10 | |
| UMLS | C0041206 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0018818 | ventricular septal defect | 5 C0265268 | adams-oliver syndrome | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0007688 | central retinal artery occlusion | 1 C0012236 | di george syndrome | 1 C0012236 | digeorge anomaly | 1 C0018799 | heart disease | 1 C0010346 | crohn's disease | 1 C0035302 | retinal artery occlusion | 1 C0878544 | cardiomyopathy | 1 C0033687 | proteinuria | 1 C0019284 | diaphragmatic hernia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 658 |
|---|---|
| Disease | truncus arteriosus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0011611 | Interrupted aortic arch | 8 HP:0001629 | Ventricular septal defects | 5 HP:0006695 | Atrioventricular septal defect, partial | 3 HP:0011662 | Tricuspid atresia | 3 HP:0001636 | Tetrology of fallot | 3 HP:0011579 | Unbalanced atrioventricular septal defect | 2 HP:0011683 | Restrictive ventricular septal defect | 1 HP:0001680 | Coarctation of aorta | 1 HP:0000078 | Genital abnormalities | 1 HP:0001638 | Cardiomyopathy | 1 HP:0000093 | Proteinuria | 1 HP:0011590 | Double aortic arch | 1 HP:0011675 | Arrhythmias | 1 HP:0001640 | Increased heart size | 1 HP:0001635 | Congestive heart failure | 1 HP:0000776 | Diaphragmatic hernia | 1 HP:0001674 | Complete atrioventricular septal defect | 1 HP:0011565 | Common atrium | 1 HP:0005301 | Persistent left superior vena cava | 1 HP:0100280 | Morbus Crohn | 1 HP:0001639 | Hypertrophic cardiomyopathy | 1 |
| Disease ID | 658 |
|---|---|
| Disease | truncus arteriosus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 | 658 |
|---|---|
| Disease | truncus arteriosus |
| Case | (Waiting for update.) |