| 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: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] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000098 | Increased body height | |
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| HP:0000278 | Retrognathia | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000523 | Subcapsular cataracts | |
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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:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000647 | Sclerocornea | |
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| HP:0000659 | Peters anomaly | |
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| HP:0000766 | Abnormality of the sternum | |
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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:0001087 | Congenital glaucoma | |
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| HP:0001115 | Posterior polar cataract | "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." [HPO:probinson] |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001643 | Patent ductus arteriosus | |
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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: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: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: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:0002875 | Exertional dyspnea | |
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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:0007700 | Anterior chamber cleavage disorder | |
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| HP:0007707 | Congenital primary aphakia | "A developmental defect resulting in congenital absence of the crystalline lens." [HPO:curators] |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007779 | Anterior segment of eye aplasia | |
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| HP:0007973 | Retinal dysplasia | |
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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:0011483 | Anterior synechiae of the anterior chamber | "Adhesions between the iris and the cornea." [DDD:ncarter] |
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| HP:0011484 | Posterior synechiae of the anterior chamber | "Adhesions between the iris and the lens." [DDD:ncarter] |
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| HP:0011493 | Central opacification of the cornea | "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] |
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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:0031159 | Thinning of Descemet membrane | "A reduction in the thickness of Descemet s membrane." [] |
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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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