| Term ID: |
11554 |
| Name: |
Double inlet atrioventricular connection |
| Synonym: |
Double inlet atrioventricular connexion |
| Definition: |
The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. |
| Comments: |
|
| Reference: |
HP:0011554 |
| Genes and Diseases: | |
Child Nodes: |
........ Double inlet left ventricle (HP:0011555) 
|
........Double inlet right ventricle (HP:0011556)
|
........Double inlet to single ventricle of indeterminate morphology (HP:0011557)
................... HP:0011558 Double inlet to single ventricle with common atrioventricular orifice
................... HP:0011559 Double inlet to single ventricle with two atrioventricular valves |
Sister Nodes: |
..Absent left sided atrioventricular connection (HP:0011547)
|
..Absent right sided atrioventricular connection (HP:0011548)
|
..Ambiguous atrioventricular connection (HP:0011552)
|
..Discordant atrioventricular connection (HP:0011553)
|
..Mitral atresia (HP:0011560)
|
..Overriding atrioventricular valve (HP:0011561)
|
..Straddling atrioventricular valve (HP:0011562)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0011554 | HP:0011554 | Double inlet atrioventricular connection | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | | HP:0011554 | HP:0011554 | Double inlet atrioventricular connection | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | | | HP:0011554 | HP:0011554 | Double inlet atrioventricular connection | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | | HP:0011554 | HP:0011554 | Double inlet atrioventricular connection | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | | | HP:0011554 | HP:0011557 | Double inlet to single ventricle of indeterminate morphology | 1 | CL E G H | | | | | | | | | | | | HP:0011554 | HP:0011556 | Double inlet right ventricle | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | | | HP:0011554 | HP:0011555 | Double inlet left ventricle | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | | | HP:0011554 | HP:0011555 | Double inlet left ventricle | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | | | HP:0011554 | HP:0011555 | Double inlet left ventricle | 1 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | | | HP:0011554 | HP:0011559 | Double inlet to single ventricle with two atrioventricular valves | 2 | CL E G H | | | | | | | | | | | | HP:0011554 | HP:0011558 | Double inlet to single ventricle with common atrioventricular orifice | 2 | CL E G H | | | | | | | | | | |
Genes (4) :CIROP MAPKAPK5 NODAL PLD1
Diseases (4) :OMIM:619702 OMIM:619869 OMIM:270100 OMIM:212093 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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