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:0000069 | Abnormality of the ureters | "An abnormality of the ureters, the ductal organs that transport urine from the kidneys to the urinary bladder." [HPO:curators] |
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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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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HP:0000194 | Open mouth | |
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HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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HP:0000316 | Hypertelorism | |
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HP:0000322 | Short philtrum | |
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HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000389 | Chronic otitis media | |
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HP:0000405 | Hearing loss, conductive | |
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HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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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:0000490 | Deep set eyes | |
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HP:0000541 | Detached retina | |
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HP:0000545 | Myopia | |
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HP:0000582 | Upslanting palpebral fissures | |
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HP:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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HP:0000679 | Taurodontia | |
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HP:0000680 | Delayed eruption of deciduous teeth | |
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HP:0000713 | Agitation | |
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HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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HP:0000720 | Mood swings | "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] |
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HP:0000733 | Stereotyped, repetitive behaviour | |
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HP:0000739 | Anxiety | |
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HP:0000750 | Impaired language development | |
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HP:0000817 | Poor eye contact | |
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HP:0000821 | Hypothyroidism | |
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HP:0000823 | Delayed puberty | |
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HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
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HP:0001156 | Brachydactyly | |
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HP:0001161 | Polydactyly (hands) | |
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HP:0001249 | Mental retardation | |
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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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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:0001265 | Hyporeflexia | |
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HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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HP:0001344 | Absent speech development | |
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HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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HP:0001531 | Failure to thrive in infancy | |
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HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
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HP:0001609 | Hoarse voice | |
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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:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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HP:0002019 | Constipation | |
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HP:0002020 | Gastroesophageal reflux | |
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HP:0002119 | Ventriculomegaly | |
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HP:0002133 | Status epilepticus | |
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HP:0002155 | Hypertriglyceridemia | |
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HP:0002167 | Neurological speech impairment | |
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HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [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:0002719 | Recurrent infections | |
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HP:0003124 | Hypercholesterolemia | |
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HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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HP:0003312 | Abnormal form of the vertebral bodies | |
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HP:0003593 | Early onset | |
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HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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HP:0004305 | Involuntary muscle contractions | |
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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:0005280 | Depressed nasal root and bridge | |
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HP:0005607 | Abnormality of the tracheobronchial system | |
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HP:0007016 | Corticospinal tract hypoplasia | |
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HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0008678 | Renal hypoplasia/aplasia | |
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HP:0008872 | Feeding problems in infancy | |
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HP:0010780 | Hyperacusis | |
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HP:0010804 | Tented upper lip vermilion | "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] |
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HP:0011228 | Horizontal eyebrow | "An eyebrow that extends straight across the brow, without curve." [pmid:19125427] |
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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:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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HP:0100542 | Abnormal localization of kidneys | |
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HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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HP:0100729 | Large face | |
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