| HP:0000006 | Autosomal dominant inheritance | "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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0001195 | Single umbilical artery | |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| 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:curators] |
Show
|
| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
Show
|
| HP:0001636 | Tetralogy of Fallot | "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." [HPO:curators] |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
Show
|
| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
Show
|
| HP:0001694 | Right-to-left shunt | |
Show
|
| HP:0001734 | Annular pancreas | |
Show
|
| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
Show
|
| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002098 | Respiratory distress | |
Show
|
| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
Show
|
| HP:0002245 | Meckel diverticulum | |
Show
|
| HP:0002247 | Duodenal atresia | "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator] |
Show
|
| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
Show
|
| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
Show
|
| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
Show
|
| HP:0002580 | Volvulus | |
Show
|
| HP:0003468 | Abnormalities of the vertebrae | |
Show
|
| HP:0003811 | Neonatal death | |
Show
|
| HP:0004383 | Hypoplastic left heart | |
Show
|
| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
Show
|
| HP:0010444 | Pulmonary insufficiency | "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] |
Show
|
| HP:0010882 | Pulmonary valve atresia | "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [HPO:probinson] |
Show
|
| HP:0011467 | Absent gallbladder | "A developmental defect in which the gallbladder fails to form." [DDD:hfirth] |
Show
|
| HP:0011718 | Abnormality of the pulmonary veins | "An abnormality of the `pulmonary veins` (FMA:70827)." [HPO:probinson] |
Show
|
| HP:0100867 | Duodenal stenosis | "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] |
Show
|
