| 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:0000214 | Lip telangiectases | |
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| HP:0000227 | Tongue telangiectases | |
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| HP:0000421 | Epistaxis | |
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| HP:0000434 | Nasal mucosa telangiectases | |
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| HP:0000471 | Gastrointestinal angiodysplasia | |
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| HP:0000524 | Conjunctival telangiectasia | "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators] |
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| HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000787 | Kidney stones | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000961 | Cyanosis | |
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| HP:0001048 | Cavernous hemangioma | "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators] |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001082 | Cholecystitis | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
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| HP:0001232 | Nail bed telangiectases | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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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:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001694 | Right-to-left shunt | |
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| HP:0001901 | Erythrocytosis | |
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| HP:0001903 | Anemia | |
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| HP:0001935 | Microcytic anemia | |
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| HP:0002040 | Esophageal varices | |
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| HP:0002076 | Migraine | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002094 | Dyspnea | |
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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:0002138 | Subarachnoid hemorrhage | |
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| HP:0002140 | Ischemic stroke | |
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| HP:0002204 | Pulmonary embolism | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002248 | Hematemesis | |
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| HP:0002249 | Melena | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002390 | Spinal arteriovenous malformation | |
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| HP:0002408 | Cerebral arteriovenous malformation | |
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| HP:0002573 | Hematochezia | |
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| HP:0002604 | Telangiectases (stomach, duodenum, small bowel, colon) | |
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| HP:0002629 | Gastrointestinal arteriovenous malformation | |
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| HP:0002707 | Palate telangiectasia | "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] |
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| HP:0004406 | Spontaneous, recurrent epistaxis | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0006107 | Fingerpad telangiectases | "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators] |
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| HP:0006548 | Pulmonary arteriovenous malformation | |
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| HP:0006574 | Hepatic arteriovenous malformation | |
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| HP:0007420 | Spontaneous hematomas | |
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| HP:0007763 | Retinal telangiectasia | |
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| HP:0030049 | Brain abscess | "A collection of pus, immune cells, and other material in the brain." [] |
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| HP:0030491 | Choriocapillaris atrophy | "Atrophy of the capillary lamina of choroid." [HPO:probinson] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100784 | Peripheral arteriovenous fistula | |
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| HP:0200008 | Multiple intestinal polyps | |
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