| 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: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:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] |
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| HP:0000077 | Abnormality of the kidneys | "An abnormality of the kidneys, the paired organs whose primary function is the production of urine." [HPO:curators] |
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| HP:0000136 | Bifid uterus | "A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts." [HPO:curators] |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [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: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:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
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| HP:0000273 | Facial grimacing | |
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| HP:0000278 | Retrognathia | |
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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:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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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:0000444 | Beaked nose | |
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| HP:0000481 | Abnormality of the cornea | "Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [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: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:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
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| HP:0000539 | Abnormality of refraction | |
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| HP:0000574 | Thick eyebrows | |
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| HP:0000579 | Nasolacrimal duct obstruction | |
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| HP:0000589 | Coloboma | "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000733 | Stereotyped, repetitive behaviour | |
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| HP:0000736 | Short attention span | "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] |
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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:0000756 | Agoraphobia | |
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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:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001042 | High axial triradius | |
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| HP:0001135 | Chorioretinal dystrophy | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001212 | Prominent fingertip pads | "A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:curators] |
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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:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001335 | Mirror hand movements (bimanual synkinesia) | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001371 | Contractures | |
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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:0001388 | Joint laxity | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001601 | Laryngomalacia | |
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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:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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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:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [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:0002098 | Respiratory distress | |
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| HP:0002144 | Tethered cord | "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
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| HP:0002162 | Low posterior hairline | |
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| HP:0002183 | Phonophobia | |
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| HP:0002236 | Frontal hair upsweep | "A frontal hair upsweep (also known as cowlick) refers to a lock of hair that stands straight up." [HPO:curators] |
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| HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
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| HP:0002317 | Unsteady gait | |
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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:0002370 | Poor coordination | |
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| HP:0002553 | Arched eyebrows | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002697 | Parietal foramina | |
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| HP:0002700 | Large foramen magnum | "An abnormal increase in the size of the foramen magnum." [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:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002870 | Obstructive sleep apnea | "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators] |
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| HP:0002999 | Dislocation of patella | "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators] |
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| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003319 | Abnormality of the cervical spine | "Any abnormality of the cervical vertebral bodies." [HPO:curators] |
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| HP:0003745 | Sporadic | |
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| HP:0003828 | Variable expressivity | |
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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: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:0004411 | Deviated nasal septum | |
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| HP:0005306 | Capillary hemangiomas | "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators] |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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| HP:0005895 | Radial deviation of thumb terminal phalanx | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006483 | Abnormal number of teeth | "Humans usually have 20 primary teeth (also called deciduous or milk teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth." [HPO:curators] |
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| HP:0008107 | Plantar crease between first and second toes | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009715 | Papillary cystadenoma of the epididymis | "Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis." [HPO:curators] |
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| HP:0009765 | Columella, low hanging | "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422] |
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| HP:0009921 | Duane anomaly | "Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows." [HPO:curators] |
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| HP:0010055 | Broad hallux | |
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| HP:0010066 | Partial/complete duplication of the phalanges of the hallux | |
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| HP:0010314 | Premature thelarche | "Premature development of the breasts." [HPO:curators] |
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| HP:0010442 | Polydactyly | |
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| HP:0010562 | Keloids | "Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair." [MeSH:D007627] |
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| HP:0010775 | Vascular ring | "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson] |
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| HP:0011087 | Talon cusp | "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [HPO:ibailleulforestier] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0100710 | Impulsivity | |
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