| HPO |
HP:0000085 |
Horseshoe kidney |
"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] |
— |
HP:0100542 |
| HPO |
HP:0003812 |
Phenotypic variability |
"A variability of phenotypic features." [HPO:probinson] |
This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. |
HP:0012823 |
| HPO |
HP:0002098 |
Respiratory distress |
"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] |
— |
HP:0002094 |
| HPO |
HP:0001539 |
Omphalocele |
"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] |
— |
HP:0004299 |
| HPO |
HP:0001719 |
Double outlet right ventricle |
"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, PMID:10798433] |
During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. |
HP:0001710, HP:0011723 |
| HPO |
HP:0001629 |
Ventricular septal defect |
"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] |
— |
HP:0010438 |
| HPO |
HP:0011565 |
Common atrium |
"Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] |
— |
HP:0005120 |
| HPO |
HP:0001642 |
Pulmonic stenosis |
"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] |
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. |
HP:0031654 |
| HPO |
HP:0002023 |
Anal atresia |
"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |
| HPO |
HP:0000104 |
Renal agenesis |
"Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] |
Renal agenesis can occur as a unilateral or bilateral trait. |
HP:0008678 |
| HPO |
HP:0000961 |
Cyanosis |
"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213] |
— |
HP:0001005 |
| HPO |
HP:0012890 |
Posteriorly placed anus |
"Posterior malposition of the anus." [UToronto:htrang] |
— |
HP:0004397 |
| HPO |
HP:0001669 |
Transposition of the great arteries |
"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." [eMedicine:900574, HPO:probinson, PMID:10798431] |
— |
HP:0011563, HP:0011603 |
| HPO |
HP:0001631 |
Atrial septal defect |
"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." [DDD:dbrown, HPO:probinson] |
— |
HP:0005120, HP:0011994 |
| HPO |
HP:0001748 |
Polysplenia |
"Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] |
— |
HP:0009799 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"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." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0001651 |
Dextrocardia |
"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] |
— |
HP:0004307 |
| HPO |
HP:0010305 |
Absence of the sacrum |
"Absence (aplasia) of the sacrum." [HPO:probinson] |
— |
HP:0008517 |
| HPO |
HP:0005912 |
Biliary atresia |
"Atresia of the biliary tree." [HPO:probinson] |
— |
HP:0012440 |
| HPO |
HP:0001419 |
X-linked recessive inheritance |
"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
— |
HP:0001417 |
| HPO |
HP:0001746 |
Asplenia |
"Absence (aplasia) of the spleen." [HPO:curators] |
— |
HP:0010451 |
| HPO |
HP:0003363 |
Abdominal situs inversus |
"A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen." [HPO:probinson] |
— |
HP:0011620 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0001640 |
Cardiomegaly |
"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography." [HPO:probinson, PMID:31194436] |
— |
HP:0001627 |