| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000015 | Bladder diverticula | "The presence of one or more diverticula (sac or pouch) in the wall of the urinary bladder." [HPO:curators] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000163 | Abnormality of the oral cavity | "Abnormality of the opening or hollow part of the mouth." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000394 | Lop ears | "The term lop ear refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears." [HPO:curators] |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000592 | Blue sclerae | |
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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:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000977 | Soft skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000993 | Molluscoid pseudotumors | |
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| HP:0001030 | Fragile skin | |
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| HP:0001058 | Poor wound healing | |
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| HP:0001073 | Cigarette-paper scars | |
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| HP:0001075 | Atrophic scars | |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001187 | Hyperextensibility of the finger joints | "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| 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] |
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| HP:0001634 | Mitral valve prolapse | |
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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:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0002010 | Narrow maxilla | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002586 | Peritonitis | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002619 | Varicose veins | |
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| HP:0002647 | Aortic dissection | "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002816 | Genu recurvatum | |
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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:0004942 | Aortic aneurysms | |
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| HP:0005100 | premature birth following premature rupture of fetal membranes | |
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| HP:0005222 | Bowel diverticula | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006316 | Irregularly spaced teeth | |
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| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
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| HP:0010485 | Hyperextensibility at elbow | "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0010500 | Hyperextensibility of the knee | "The ability of the knee joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0025014 | Subcutaneous spheroids | "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [] {comment="PMID:20847697"} |
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| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
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