| 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:0000036 | Abnormality of the penis | |
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| HP:0000093 | Proteinuria | |
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| HP:0000096 | Glomerulosclerosis | |
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| HP:0000131 | Uterine leiomyoma | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [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:0000221 | Furrowed tongue | "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| HP:0000365 | Hearing loss | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000505 | Impaired vision | |
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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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000545 | Myopia | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000602 | Ophthalmoplegia | |
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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:0000648 | Optic atrophy | |
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| HP:0000717 | Autism | |
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| HP:0000740 | Anxiety (with pheochromocytoma) | |
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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:0000771 | Gynecomastia | |
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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:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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| HP:0000875 | Episodic hypertension | |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000980 | Pallor | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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| HP:0001028 | Hemangiomas | "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [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:0001053 | Hypopigmented skin patches | |
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| HP:0001069 | Hyperhidrosis, episodic | |
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| HP:0001095 | Hypertensive retinopathy | |
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| HP:0001156 | Brachydactyly | |
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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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [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:0001293 | Cranial nerve compression | |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001371 | Contractures | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001605 | Vocal cord paralysis | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001618 | Dysphonia | |
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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:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001644 | Dilated cardiomyopathy | |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001686 | Loss of voice | |
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| HP:0001708 | Right ventricular failure | |
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| HP:0001824 | Weight loss | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0001962 | Palpitations | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002018 | Nausea | |
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| HP:0002027 | Abdominal pain | |
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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:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002331 | Headache (with pheochromocytoma) | |
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| HP:0002376 | Developmental regression | |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002605 | Hepatic necrosis | |
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| HP:0002640 | Hypertension (with pheochromocytoma) | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002666 | Pheochromocytoma | "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:curators] |
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| HP:0002668 | Paragangliomas | "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:curators] |
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| HP:0002730 | Chronic noninfectious lymphadenopathy | |
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| HP:0002808 | Kyphosis | |
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| HP:0002858 | Meningioma | |
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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:0002864 | Paragangliomas, head and neck | |
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| HP:0002886 | Vagal nerve tumors (glomus vagale) | |
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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:0003001 | Glomus jugular tumors | |
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| HP:0003002 | Breast cancer | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003144 | Increased serum serotonin in 25% | |
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| HP:0003198 | Myopathy | |
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| HP:0003200 | Ragged-red muscle fibers | "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] |
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| HP:0003287 | Abnormality of mitochondrial metabolism | |
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| HP:0003334 | Elevated catecholamines (in patients with pheochromocytoma) | |
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| HP:0003345 | Elevated urinary norepinephrine | |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003528 | Elevated calcitonin | |
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| HP:0003546 | Exercise intolerance | |
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| HP:0003574 | Positive regitine test | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003593 | Early onset | |
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| HP:0003639 | Increased urinary epinephrine | |
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| HP:0003812 | Phenotypic variability | |
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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:0004385 | Protracted diarrhea | |
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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:0004897 | lactic acidosis may occur with stress or infection | |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0005214 | Intestinal obstruction | |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0005595 | Hyperkeratosis, generalized | |
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| HP:0006715 | Tympanic nerve tumors | |
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| HP:0006722 | Small intestine carcinoid | |
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| HP:0006723 | Intestinal carcinoid | |
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| HP:0006731 | Follicular thyroid carcinoma | |
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| HP:0006737 | Pheochromocytoma, extraadrenal | "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:curators] |
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| HP:0006748 | Pheochromocytoma, adrenal | "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0006980 | Leukoencephalopathy, progressive | |
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| HP:0007378 | Gastrointestinal tract tumors | |
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| HP:0007380 | Facial telangiectatic vessels | "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators] |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0008314 | Decreased activity of mitochondrial complex ii | |
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| HP:0008316 | Abnormal mitochondria on muscle biopsy | |
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| HP:0008629 | Pulsatile tinnitus | "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators] |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0009711 | Retinal hemangioblastoma | "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called "retinal angiomas" and "retinal hemangiomas" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:curators] |
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| HP:0009720 | Adenoma sebaceum | "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators] |
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| HP:0009926 | Increased tear production | "Abnormally in creased lacrimation." [HPO:curators] |
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| HP:0010532 | Paroxysmal vertigo | "Paroxysmal episodes of vertigo." [HPO:curators] |
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| HP:0011703 | Sinus tachycardia | "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] |
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| HP:0011979 | Elevated urinary dopamine | "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0012032 | Lipoma | "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012114 | Endometrial carcinoma | "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson] |
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| HP:0012222 | Arachnoid hemangiomatosis | "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson] |
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| HP:0012240 | Increased intramyocellular lipid droplets | "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
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| HP:0012740 | Papilloma | "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson] |
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| HP:0025269 | Panic attack | "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." [] |
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| HP:0025428 | Bronchospasm | "A spasm (sudden, involuntary constriction) of the bronchioles." [] |
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| HP:0025474 | Erythematous plaque | "A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation." [] |
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| HP:0030074 | Chemodectoma | "A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract." [] |
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| HP:0030145 | Lack of bowel sounds | "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson] |
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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:0030166 | Night sweats | "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329] |
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| HP:0030446 | Atypical pulmonary carcinoid tumor | |
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| HP:0030682 | Left ventricular noncompaction | "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708] |
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| HP:0031138 | Abnormal B-type natriuretic peptide level | "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)." [PMID:22145138] |
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| HP:0031284 | Flushing | "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] |
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| HP:0031417 | Rhinorrhea | "Increased discharge of mucus from the nose." [] |
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| HP:0100031 | Neoplasm of the thyroid gland | "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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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:0100579 | Mucosal telangiectasiae | "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] |
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| HP:0100723 | Gastrointestinal stroma tumor | |
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| HP:0100749 | Chest pain | |
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| HP:0100780 | Conjunctival hamartomas | |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200063 | Colorectal polyps | |
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