| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] |
Show
|
| 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:0000021 | Lower urinary tract dilatation | |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000028 | Cryptorchidism | "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 testis." [HPO:curators] |
Show
|
| HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
Show
|
| HP:0000098 | Increased body height | |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000525 | Abnormality of the iris | "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:curators] |
Show
|
| HP:0000766 | Abnormality of the sternum | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0000965 | Cutis marmorata | |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
Show
|
| HP:0001297 | Stroke | |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
Show
|
| HP:0001539 | Omphalocele | |
Show
|
| HP:0001561 | Polyhydramnios | |
Show
|
| HP:0001640 | Cardiomegaly | |
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:0001659 | Aortic insufficiency | "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] |
Show
|
| HP:0001677 | Coronary artery disease | |
Show
|
| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
Show
|
| HP:0002017 | Nausea and vomiting | |
Show
|
| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
Show
|
| HP:0002107 | Pneumothorax | |
Show
|
| HP:0002138 | Subarachnoid hemorrhage | |
Show
|
| HP:0002140 | Ischemic stroke | |
Show
|
| HP:0002326 | Transient ischemic attack | |
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:0002616 | Aortic root dilatation | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002686 | Prenatal maternal abnormality | |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002875 | Exertional dyspnea | |
Show
|
| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
Show
|
| HP:0004388 | Microcolon | |
Show
|
| HP:0004933 | ascending aortic dissection | |
Show
|
| HP:0004942 | Aortic aneurysms | |
Show
|
| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
Show
|
| HP:0004950 | Peripheral arterial disease | |
Show
|
| HP:0004959 | Dilatation of the descending thoracic aorta | |
Show
|
| HP:0005112 | Dilatation of the abdominal aorta | |
Show
|
| HP:0005162 | Impaired left ventricular function | |
Show
|
| HP:0008034 | Abnormal iris pigmentation | |
Show
|
| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
Show
|
| HP:0012163 | Carotid artery aneurysm | "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
Show
|
| HP:0012180 | Cystic medial necrosis | "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [HPO:probinson] |
Show
|
| HP:0012499 | Descending aortic dissection | "A separation of the layers within the wall of the `descending aorta` (FMA:3784). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
Show
|
| HP:0012763 | Paroxysmal dyspnea | "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
Show
|
| HP:0100544 | Cardiac neoplasm | "A `neoplasm` (MPATH:218) of the `heart` (FMA:7088)." [HPO:probinson] |
Show
|
| HP:0100749 | Chest pain | |
Show
|
| HP:0100771 | Hypoperistalsis | |
Show
|
| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
Show
|
| HP:0100806 | Sepsis | |
Show
|
| HP:0200146 | Cystic medial necrosis of the aorta | |
Show
|
