Phenotypes associated with the disease cardiac valvular defect, developmental (OMIM:212093):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:27799408)
- Hypoplasia of right ventricle (HP:0004762): Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:212093)
- Double inlet left ventricle (HP:0011555): The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Tricuspid stenosis (HP:0010446): A narrowing of the orifice of the tricuspid valve of the heart. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Tricuspid atresia (HP:0011662): Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. (OMIM:212093)
- Tricuspid valve prolapse (HP:0001704): One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Evidence: TAS. (OMIM:212093)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: IEA. (OMIM:212093)
- Subpulmonary stenosis (HP:0034348): A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Aberrant right subclavian artery (HP:0031632): Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. Evidence: TAS. (OMIM:212093)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: IEA. (OMIM:212093)
- Muscular ventricular septal defect (HP:0011623): The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Left aortic arch with cervical origin of the right subclavian artery (HP:0011591). Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Valvular pulmonary stenosis (HP:0034350): A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:212093)
- Mitral stenosis (HP:0001718): An abnormal narrowing of the orifice of the mitral valve. Evidence: IEA. (OMIM:212093)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27799408)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/6. (PMID:27799408)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 2/6. (PMID:27799408)
- Urethral diverticulum (HP:0008722): The presence of a diverticulum (sac or pouch) in the wall of the urethra. Evidence: IEA. (OMIM:212093)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. (OMIM:212093)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:212093)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: TAS. (OMIM:212093)