| 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: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:0000098 | Increased body height | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [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:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000219 | Thin upper lip | |
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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:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000275 | Narrow face | |
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| HP:0000276 | Long face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000293 | Full cheeks | |
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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:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000411 | Protruding ears | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000426 | Prominent nasal bridge | |
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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:0000460 | Narrow nose | |
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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:0000485 | Megalocornea | "An enlargement of the `cornea` (FMA:58238) with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] |
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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: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:0000505 | Impaired vision | |
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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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000525 | Abnormality of the iris | "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:curators] |
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| HP:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
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| HP:0000534 | Abnormality of the eyebrow | "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000565 | Esotropia | |
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| HP:0000572 | Visual loss | |
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| HP:0000577 | Exotropia | |
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| HP:0000586 | Shallow orbits | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000594 | Shallow anterior chamber | |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [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:0000678 | Dental overcrowding | |
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| HP:0000692 | Misalignment of teeth | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000766 | Abnormality of the sternum | |
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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:0000774 | Narrow chest | |
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| HP:0000787 | Kidney stones | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000885 | Broad ribs | |
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| HP:0000921 | Missing ribs | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000965 | Cutis marmorata | |
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| HP:0000973 | Cutis laxa | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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| HP:0001072 | Thickened skin | |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001169 | Broad hands | |
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| HP:0001181 | Adducted thumbs | |
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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:0001230 | Broad metacarpals | |
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| HP:0001249 | Mental retardation | |
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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:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001334 | Communicating hydrocephalus | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [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:0001482 | Subcutaneous nodules | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001518 | Low birth weight | |
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| HP:0001519 | Dolichostenomelia | "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [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:0001562 | Oligohydramnios | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001622 | Premature birth | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001634 | Mitral valve prolapse | |
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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:0001640 | Cardiomegaly | |
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| HP:0001642 | Pulmonic stenosis | "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001646 | Abnormality of the aortic valve | "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] |
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| HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001659 | Aortic insufficiency | "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] |
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| HP:0001677 | Coronary artery disease | |
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| HP:0001704 | Tricuspid valve prolapse | |
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| HP:0001713 | Abnormality of the cardiac ventricle | |
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| HP:0001718 | Mitral stenosis | |
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| HP:0001761 | Pes cavus | |
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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:0001765 | Hammer toes | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001783 | Broad metatarsals | |
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| HP:0002002 | Deep philtrum | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002097 | Emphysema | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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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:0002119 | Ventriculomegaly | |
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| HP:0002138 | Subarachnoid hemorrhage | |
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| HP:0002140 | Ischemic stroke | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002643 | Neonatal respiratory distress | |
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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:0002682 | Broad skull | |
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| HP:0002686 | Prenatal maternal abnormality | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002753 | Thin bony cortex | "Abnormal thinning of the cortical region of bones." [HPO:curators] |
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| HP:0002816 | Genu recurvatum | |
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| HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
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| HP:0002857 | Genu valgum | |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0003026 | Short long bones | |
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| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
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| HP:0003088 | Premature osteoarthritis | |
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| HP:0003116 | Abnormal echocardiogram | |
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| HP:0003119 | Abnormality of lipid metabolism | |
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| HP:0003179 | Protrusio acetabuli | "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003302 | Spondylolisthesis | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003508 | Proportionate short stature | "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [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:0004872 | Recurrent or incisional hernia | |
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| HP:0004927 | pulmonary artery dilatation | |
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| HP:0004933 | ascending aortic dissection | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0004959 | Dilatation of the descending thoracic aorta | |
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| HP:0004970 | Ascending aortic dilation | |
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| HP:0005112 | Dilatation of the abdominal aorta | |
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| HP:0005136 | Premature calcification of mitral annulus | |
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| HP:0005162 | Impaired left ventricular function | |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005900 | Fifth metacarpal notched on ulnar side | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007800 | Increased axial globe length | |
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| HP:0008065 | Aplasia/Hypoplasia of the skin | |
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| HP:0008081 | Valgus foot deformity | |
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| HP:0008124 | Talipes calcaneovarus | |
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| HP:0008132 | Medial rotation of the medial malleolus | |
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| HP:0008734 | Decreased testicular size | |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009768 | Broad phalanges of the hand | "Increased width of the phalanges of the hand." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0009901 | Crumpled ear helices | |
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| HP:0009918 | Ectopia pupillae | "A malposition of the pupil." [HPO:curators] |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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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:0010511 | Increased length of toes | "The presence of abnormally long toes." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0011003 | Severe Myopia | |
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| HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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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:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0012163 | Carotid artery aneurysm | "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] |
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| HP:0012418 | Hypoxemia | "An abnormally low level of blood oxygen." [HPO:probinson] |
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| HP:0012499 | Descending aortic dissection | "A separation of the layers within the wall of the `descending aorta` (FMA:3784). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
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| HP:0012763 | Paroxysmal dyspnea | "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] |
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| HP:0012771 | Increased arm span | "Decreased length of the arm span (length from one end of an individual s arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle." [HPO:probinson] |
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| HP:0030053 | Stiff skin | "An induration (hardening) of the skin" [] |
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| HP:0030148 | Heart murmur | "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson] |
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| HP:0030799 | Scaphocephaly | "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302] |
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| HP:0030961 | Microspherophakia | "Lens of the eye is smaller than normal and spherically shaped." [] |
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| HP:0040083 | Toe walking | |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [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:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100625 | Enlarged thorax | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100693 | Iridodonesis | "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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| HP:0100775 | Dural ectasia | "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] |
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| HP:0200055 | Small hands | |
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| HP:0200146 | Cystic medial necrosis of the aorta | |
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