| 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: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] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000139 | Uterine prolapse | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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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:0000190 | Frenular abnormality | "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson] |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000230 | Gingivitis | |
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| HP:0000233 | Thin vermillion border | |
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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:0000316 | Hypertelorism | |
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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:0000411 | Protruding ears | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000490 | Deep set eyes | |
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| HP:0000499 | Abnormality of the eyelashes | "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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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:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
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| HP:0000592 | Blue sclerae | |
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| HP:0000615 | Abnormality of the pupils | |
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| HP:0000670 | Carious teeth | |
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| HP:0000691 | Microdontia | |
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| HP:0000704 | Periodontal disease | |
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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:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [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:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001482 | Subcutaneous nodules | |
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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:0001582 | Loose, redundant skin | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001622 | Premature birth | |
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| HP:0001634 | Mitral valve prolapse | |
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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: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:0002076 | Migraine | |
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| HP:0002093 | Respiratory insufficiency | |
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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:0002242 | Abnormality of the intestines | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002326 | Transient ischemic attack | |
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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:0002642 | Arteriovenous fistulas of celiac and mesenteric vessels | |
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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:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002797 | Osteolysis | |
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| HP:0002816 | Genu recurvatum | |
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| HP:0002900 | Hypokalemia | |
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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:0004372 | Reduced consciousness/confusion | |
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| HP:0004937 | pulmonary artery aneurysm | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0004970 | Ascending aortic dilation | |
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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:0005244 | Gastrointestinal infarctions | |
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| HP:0005294 | Arterial dissection | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006316 | Irregularly spaced teeth | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007900 | Hypoplastic lacrimal duct | |
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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:0009906 | Aplasia/Hypoplasia of the earlobes | "Absence or underdevelopment of the ear lobes." [HPO:curators] |
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| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | "Absence or underdevelopment of the abdominal wall musculature." [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:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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| HP:0010648 | Dermal translucency | "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [HPO:curator] |
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| HP:0010719 | Abnormality of hair texture | "An abnormality of the texture of the `hair` (FMA:53667)." [HPO:probinson] |
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| HP:0011029 | Internal hemorrhage | "The presence of `hemorrhage` (MPATH:119) within the `body` (FMA:20394)." [HPO:probinson] |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
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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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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100645 | Cystocele | "When the tough fibrous wall between a woman s bladder and her vagina (the pubocervical fascia) is torn, allowing the bladder to herniate into the vagina." [HPO:sdoelken] |
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| HP:0100718 | Uterine rupture | |
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| HP:0100784 | Peripheral arteriovenous fistula | |
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| HP:0100817 | Renovascular hypertension | "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." [HPO:probinson] |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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