eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| complete atrioventricular canal | ||||
| Disease ID | 1050 |
|---|---|
| Disease | complete atrioventricular canal |
| Definition | .A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. [DDD:dbrown, pmid:17101870] |
| Synonym | atrioventricular canal type ventricular septal defect atrioventricular canal, common common atrioventricular canal common atrioventricular canal (disorder) common atrioventricular canal (disorder) [ambiguous] common atrioventricular valve complete atrioventricular septal defect endocardial cushion defect, complete type inlet ventricular septal defect ostium atrioventriculare commune persistent atrioventricular canal type 3 ventricular septal defect |
| Orphanet | |
| UMLS | C0221215 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| 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:1) NR2F2 | 15q26.2 |
| Disease ID | 1050 |
|---|---|
| Disease | complete atrioventricular canal |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0001671 | Abnormality of the cardiac septa |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0001636 | Tetrology of fallot | 6 HP:0001719 | Double-outlet right ventricle | 3 HP:0001629 | Ventricular septal defects | 1 HP:0011604 | Aortopulmonary window | 1 HP:0000822 | Hypertension | 1 HP:0006695 | Atrioventricular septal defect, partial | 1 HP:0001660 | Common arterial trunk | 1 HP:0000961 | Cyanosis | 1 HP:0001750 | Single ventricle | 1 |
| Disease ID | 1050 |
|---|---|
| Disease | complete atrioventricular canal |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001671 | Abnormality of the cardiac septa | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001671 | Abnormality of the cardiac septa | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| Disease ID | 1050 |
|---|---|
| Disease | complete atrioventricular canal |
| Case | (Waiting for update.) |