| 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:0000039 | Epispadias | "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [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:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [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:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
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| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000202 | Cleft lip/palate | |
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| HP:0000219 | Thin upper lip | |
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| HP:0000233 | Thin vermillion border | |
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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: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:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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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:0000421 | Epistaxis | |
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| HP:0000426 | Prominent nasal bridge | |
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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:0000490 | Deep set eyes | |
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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:0000524 | Conjunctival telangiectasia | "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators] |
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| HP:0000540 | Hypermetropia | |
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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:0000574 | Thick eyebrows | |
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| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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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:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000717 | Autism | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000787 | Kidney stones | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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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:0000885 | Broad ribs | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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| HP:0001048 | Cavernous hemangioma | "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators] |
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| HP:0001072 | Thickened skin | |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001082 | Cholecystitis | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [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:0001297 | Stroke | |
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| HP:0001328 | Learning disability | |
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| HP:0001342 | Cerebral hemorrhage | "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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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:0001394 | Cirrhosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001508 | Failure to thrive | |
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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:0001608 | Abnormality of the voice | "Any abnormality of the voice." [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:0001643 | Patent ductus arteriosus | |
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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:0001671 | Abnormality of the cardiac septa | |
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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:0001698 | Pericardial effusion | |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001824 | Weight loss | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001845 | Overriding toes | "A congenital condition in which a toe is adducted, dorsifelxed, and medially deviated, generally lying over the metatarsal phalangeal joint of the adjacent toe. Usually, the fifth toe is affected." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0001935 | Microcytic anemia | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002035 | Rectal prolapse | |
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| HP:0002039 | Anorexia | |
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| HP:0002040 | Esophageal varices | |
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| HP:0002076 | Migraine | |
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| HP:0002092 | Pulmonary hypertension | |
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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:0002138 | Subarachnoid hemorrhage | |
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| HP:0002204 | Pulmonary embolism | |
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| HP:0002213 | Fine hair | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002254 | Intermittent diarrhea | |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002408 | Cerebral arteriovenous malformation | |
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| HP:0002573 | Hematochezia | |
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| HP:0002576 | Intussusception | |
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| HP:0002672 | Gastrointestinal carcinoma | |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002896 | Liver cancer | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0003002 | Breast cancer | |
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| HP:0003003 | Colon cancer | |
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| HP:0003026 | Short long bones | |
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| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| HP:0003172 | Abnormality of the pubic bones | |
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| HP:0003241 | Genital hypoplasia | |
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| HP:0003418 | Back pain | |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
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| HP:0003720 | Generalized muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [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:0004389 | Intestinal pseudo-obstruction | |
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| HP:0004390 | Hamartomatous polyps | "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators] |
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| HP:0004394 | Multiple gastric polyps | |
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| HP:0004396 | Poor appetite | |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0004621 | Large, flattened vertebrae with large pedicles | |
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| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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| HP:0004784 | juvenile gastrointestinal polyposis | |
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| HP:0004894 | laryngotracheal stenosis | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0005249 | Functional intestinal obstruction | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006548 | Pulmonary arteriovenous malformation | |
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| HP:0006574 | Hepatic arteriovenous malformation | |
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| HP:0006725 | Pancreatic adenocarcinoma | |
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| HP:0006771 | Duodenal carcinoma | |
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| HP:0007420 | Spontaneous hematomas | |
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| HP:0007763 | Retinal telangiectasia | |
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| HP:0008070 | Sparse hair | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0008551 | Underdeveloped ears | |
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| HP:0008818 | Large, flared iliac wings | |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009466 | Radial deviation of fingers | |
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| HP:0010579 | Cone-shaped epiphyses | |
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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:0012334 | Extrahepatic cholestasis | "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0012432 | Chronic fatigue | "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] |
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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:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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| HP:0030053 | Stiff skin | "An induration (hardening) of the skin" [] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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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:0030690 | Gingival cleft | "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla." [] |
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| HP:0100333 | Unilateral cleft lip | |
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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:0100585 | Teleangiectasia of the skin | |
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| HP:0100592 | Peritoneal abscess | "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson] |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100784 | Peripheral arteriovenous fistula | |
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| HP:0200008 | Multiple intestinal polyps | |
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| HP:0410067 | Increased level of L-fucose in urine | "An increase in the level of L-fucose in the urine." [PMID:2311216] |
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