| 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:0000023 | Inguinal hernia | |
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| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000113 | Polycystic kidney | |
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| HP:0000122 | Unilateral renal agenesis | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000130 | Abnormality of the uterus | "An abnormality of the uterus (womb)." [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: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:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000194 | Open mouth | |
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| HP:0000201 | Pierre-Robin sequence | |
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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:0000220 | Velopharyngeal insufficiency | |
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| HP:0000238 | Hydrocephalus | |
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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:0000262 | Turricephaly | "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] |
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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:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000319 | Flat philtrum | |
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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: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: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:0000370 | Abnormality of the middle ear | |
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| HP:0000385 | Hypoplastic ear lobes | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000426 | Prominent nasal bridge | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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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:0000445 | Broad nose | |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000457 | Flat nose | |
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| HP:0000470 | Short neck | |
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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: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: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:0000565 | Esotropia | |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000577 | Exotropia | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000600 | Abnormality of the pharynx | |
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| HP:0000627 | Posterior embryotoxon | |
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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:0000647 | Sclerocornea | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000670 | Carious teeth | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000717 | Autism | |
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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:0000722 | Obsessive-compulsive disorder | |
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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:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000777 | Abnormality of the thymus | "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:curators] |
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| HP:0000778 | Thymus hypoplasia | "Underdevelopment of the thymus." [HPO:curators] |
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| HP:0000818 | Endocrine abnormality | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0000836 | Hyperthyroidism | "Hyperthyroidism refers to excessive secretion of thyroid hormone." [HPO:curators] |
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| HP:0000860 | Parathyroid hypoplasia | |
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| HP:0000979 | Purpura | |
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| HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001061 | Acne | |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001136 | Retinal arteriolar tortuosity | |
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| HP:0001155 | Abnormality of the hand | "An abnormality affecting one or both hands." [HPO:curators] |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [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: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: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:0001281 | Tetany | |
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| HP:0001328 | Learning disability | |
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| HP:0001369 | Arthritis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001511 | Intrauterine growth retardation | |
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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: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:0001561 | Polyhydramnios | |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001611 | Nasal speech | |
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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:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001641 | Abnormality of the pulmonary valve | "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] |
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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:0001660 | Persistant truncus arteriosus | "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators] |
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| HP:0001669 | Transposition of the great vessels | |
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| HP:0001674 | Complete atrioventricular canal | "A congenital malformation characterized by atrial septal defect, ventricular septal defect), and abnormalities of the tricuspid and mitral valves." [HPO:curators] |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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| HP:0001719 | Double outlet right ventricle | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002019 | Constipation | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
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| HP:0002139 | Arrhinencephaly | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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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:0002357 | Dysphasia | |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002619 | Varicose veins | |
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| HP:0002627 | Right aortic arch | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002691 | Platybasia | |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002960 | Autoimmune disease | |
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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:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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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:0004383 | Hypoplastic left heart | |
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| HP:0004467 | Preauricular sinus | "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators] |
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| HP:0005435 | Impaired T cell function | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006510 | Chronic obstructive pulmonary disease | |
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| HP:0006549 | Primary pulmonary dysgenesis, unilateral | |
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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:0007271 | Occipital myelomeningocele | |
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| HP:0007302 | Bipolar affective disorder | |
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| HP:0008211 | Parathyroid absence | |
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| HP:0008661 | Urethral stenosis | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009908 | Earlobe crease | "The presence of a crease in the ear lobe." [HPO:curators] |
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| HP:0010055 | Broad hallux | |
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| HP:0010515 | Aplasia/Hypoplasia of the thymus | "Absence or underdevelopment of the thymus." [HPO:curators] |
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| HP:0010978 | Abnormality of immune system physiology | "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] |
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| HP:0011324 | Multiple suture craniosynostosis | "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [DDD:awilkie] |
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| HP:0011496 | Corneal vascularization | "Ingrowth of vessels into the corneal epithelium." [DDD:ncarter] |
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| HP:0011611 | Interrupted aortic arch | "Non-continuity of the aortic arch with an atretic point or absent segment." [DDD:dbrown] |
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| HP:0011662 | Tricuspid atresia | "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, 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:0011999 | Paranoia | "A persecutory delusion of supposed hostility of others." [HPO:probinson] |
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| HP:0012303 | Abnormality of the aortic arch | "An anomaly of the `arch of aorta`(FMA:3768)." [HPO:probinson] |
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| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
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| HP:0012841 | Retinal vascular tortuosity | "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] |
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| HP:0025312 | Esophoria | "A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters." [] |
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| HP:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
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| HP:0100627 | Displacement of the external urethral meatus | "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] |
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| HP:0100735 | Hypertensive crisis | |
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| HP:0100750 | Atelectasis | |
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| HP:0100753 | Schizophrenia | "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] |
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| HP:0100765 | Abnormality of the tonsils | "An abnormality of the `tonsils` (FMA:9609)." [HPO:probinson] |
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