eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tricuspid atresia | ||||
| Disease ID | 1908 |
|---|---|
| Disease | tricuspid atresia |
| Definition | Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional. |
| Synonym | absent right atrioventricular connection atresia, tricuspid atresia, tricuspid valve atresias, tricuspid atresias, tricuspid valve congenital atresia of tricuspid valve congenital atresia of tricuspid valve (disorder) right atrioventricular valve atresia right atrioventricular valve atresia (disorder) ta - tricuspid atresia tricuspid atresia (disorder) tricuspid atresia [disease/finding] tricuspid atresias tricuspid valve atresia tricuspid valve atresias tricuspid valve, atresia valve atresia, tricuspid valve atresias, tricuspid |
| Orphanet | |
| OMIM | |
| UMLS | C0243002 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0018818 | ventricular septal defect | 3 C0265202 | seckel syndrome | 1 C0040053 | thrombus | 1 C0020542 | pulmonary hypertension | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:32) 653 | BMP5 | 2.68 | DISEASES 655 | BMP7 | 1.267 | DISEASES 773 | CACNA1A | 1.183 | DISEASES 1066 | CES1 | 2.024 | DISEASES 1201 | CLN3 | 1.263 | DISEASES 78987 | CRELD1 | 5.234 | DISEASES 1969 | EPHA2 | 1.405 | DISEASES 3266 | ERAS | 1.181 | DISEASES 2117 | ETV3 | 1.199 | DISEASES 2153 | F5 | 1.759 | DISEASES 2626 | GATA4 | 2.363 | DISEASES 9464 | HAND2 | 2.686 | DISEASES 23493 | HEY2 | 3.267 | DISEASES 3638 | INSIG1 | 2.257 | DISEASES 3987 | LIMS1 | 4.378 | DISEASES 4535 | MT-ND1 | 2.205 | DISEASES 4624 | MYH6 | 1.736 | DISEASES 4772 | NFATC1 | 2.397 | DISEASES 1482 | NKX2-5 | 3.032 | DISEASES 3084 | NRG1 | 1.285 | DISEASES 103752588 | PACERR | 3.205 | DISEASES 5225 | PGC | 2.036 | DISEASES 6390 | SDHB | 1.293 | DISEASES 6392 | SDHD | 1.357 | DISEASES 5265 | SERPINA1 | 1.21 | DISEASES 347734 | SLC35B2 | 2.054 | DISEASES 6899 | TBX1 | 2.421 | DISEASES 57057 | TBX20 | 2.743 | DISEASES 7010 | TEK | 1.072 | DISEASES 7441 | VPREB1 | 2.147 | DISEASES 165904 | XIRP1 | 2.861 | DISEASES 23414 | ZFPM2 | 3.569 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1908 |
|---|---|
| Disease | tricuspid atresia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0001660 | Common arterial trunk | 3 HP:0011604 | Aortopulmonary window | 3 HP:0001629 | Ventricular septal defects | 3 HP:0001649 | Tachycardia | 2 HP:0005134 | Absence of the pulmonary valve | 2 HP:0001642 | Pulmonic stenosis | 1 HP:0001627 | Congenital heart defects | 1 HP:0006695 | Atrioventricular septal defect, partial | 1 HP:0011536 | Right atrial isomerism | 1 HP:0030853 | Heterotaxy | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0011675 | Arrhythmias | 1 HP:0001643 | Persistent ductus arteriosus | 1 |
| Disease ID | 1908 |
|---|---|
| Disease | tricuspid atresia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1908 |
|---|---|
| Disease | tricuspid atresia |
| Case | (Waiting for update.) |