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: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:0000079 | Abnormality of the urinary tract | |
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HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [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:0000194 | Open mouth | |
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HP:0000202 | Cleft lip/palate | |
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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:0000220 | Velopharyngeal insufficiency | |
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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:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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HP:0000283 | Broad face | |
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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:0000325 | Triangular facies | |
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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:0000356 | Abnormality of the outer ear | "An abnormality of the outer ear, which is also known as `pinna` (FMA:56580 ) or auricle." [HPO:probinson] |
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HP:0000365 | Hearing loss | |
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HP:0000368 | Low-set, posteriorly rotated ears | |
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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:0000494 | Downward slanting palpebral fissures | |
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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:0000717 | Autism | |
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HP:0000733 | Stereotyped, repetitive behaviour | |
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HP:0000739 | Anxiety | |
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HP:0000742 | Self-mutilation | |
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HP:0000750 | Impaired language development | |
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HP:0000752 | Hyperactivity | |
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HP:0000820 | Abnormality of the thyroid gland | |
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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:0001156 | Brachydactyly | |
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HP:0001161 | Polydactyly (hands) | |
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HP:0001169 | Broad 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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [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:0001284 | Areflexia | |
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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: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:0001508 | Failure to thrive | |
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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:0001600 | Abnormality of the larynx | |
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HP:0001609 | Hoarse voice | |
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HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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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:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0002119 | Ventriculomegaly | |
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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:0002357 | Dysphasia | |
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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:0002474 | Expressive language delay | |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002715 | Immunological abnormality | |
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HP:0002916 | Abnormality of the chromosomes | "A cytogenetically visible chromosomal abnormality." [HPO:curators] |
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HP:0002973 | Abnormality of the forearm | "An abnormality of the lower arm." [HPO:curators] |
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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:0003745 | Sporadic | |
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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:0004279 | Hypoplastic hand | |
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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:0006482 | Abnormality of dental morphology | |
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HP:0007010 | Poor fine motor coordination | |
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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:0008499 | High-grade hypermetropia | |
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HP:0008609 | Middle ear malformations | |
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HP:0008678 | Renal hypoplasia/aplasia | |
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HP:0008872 | Feeding problems in infancy | |
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HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [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:0010780 | Hyperacusis | |
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HP:0010803 | Everted upper lip vermilion | "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an `everted` (PATO:0001597) `upper lip` (FMA:59817)." [HPO:probinson, pmid:19125428] |
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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:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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HP:0011098 | Speech apraxia | "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson] |
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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:0012168 | Head-banging | "Habitual striking of one s own head against a surface such as a mattress or wall of a crib." [HPO:probinson] |
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HP:0012210 | Abnormal renal morphology | "Any structural anomaly of the `kidney` (FMA:7203)." [HPO:probinson] |
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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:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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HP:0100729 | Large face | |
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HP:0200136 | Oral-pharyngeal dysphagia | |
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