| 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] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000098 | Increased body height | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000276 | Long face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000283 | Broad face | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| 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] |
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| HP:0000577 | Exotropia | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000766 | Abnormality of the sternum | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000965 | Cutis marmorata | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001518 | Low birth weight | |
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| 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] |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001655 | Patent foramen ovale | |
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| 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] |
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| HP:0001677 | Coronary artery disease | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| 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] |
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| HP:0002036 | Hiatus hernia | "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators] |
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| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
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| HP:0002107 | Pneumothorax | |
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| HP:0002138 | Subarachnoid hemorrhage | |
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| HP:0002140 | Ischemic stroke | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002686 | Prenatal maternal abnormality | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003302 | Spondylolisthesis | |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004933 | ascending aortic dissection | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0004959 | Dilatation of the descending thoracic aorta | |
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| HP:0005112 | Dilatation of the abdominal aorta | |
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| HP:0005162 | Impaired left ventricular function | |
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| HP:0010646 | Cervical spine instability | "An abnormal lack of stability of the cervical spine." [HPO:curators] |
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| HP:0010665 | Bilateral coxa valga | "The presence of bilateral `coxa_valga` (HP:0002673)." [HPO:probinson] |
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| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0011663 | Arrhythmogenic right ventricular cardiomyopathy | "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria." [pmid:17916581] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012163 | Carotid artery aneurysm | "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
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| 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] |
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| HP:0012763 | Paroxysmal dyspnea | "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
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| HP:0012771 | Increased arm span | "Decreased length of the arm span (length from one end of an individual s arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle." [HPO:probinson] |
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| HP:0100749 | Chest pain | |
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| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
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| HP:0200146 | Cystic medial necrosis of the aorta | |
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