- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Abnormal vagina morphology (HP:0000142): Any structural abnormality of the vagina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Abnormal fallopian tube morphology (HP:0011027): An abnormality of the fallopian tube. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3097)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Hydrometrocolpos (HP:0030010): Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Pulmonary sequestration (HP:0100632): The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3097)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Conotruncal defect (HP:0001710): A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Abnormality of the spleen (HP:0001743): An abnormality of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Crossed fused renal ectopia (HP:0004736): A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
- Anomalous pulmonary venous return (HP:0010772): A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3097)
These phenotypes are associated with the disease Meacham syndrome (ORPHA:3097).