| 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: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:0000055 | Abnormality of female external genitalia | |
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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:0000194 | Open mouth | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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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:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP: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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000457 | Flat nose | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000635 | Blue irides | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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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:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000713 | Agitation | |
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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:0000739 | Anxiety | |
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| HP:0000750 | Impaired language development | |
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| HP:0000752 | Hyperactivity | |
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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:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
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| HP:0000851 | Congenital hypothyroidism | |
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| HP:0000852 | Pseudohypoparathyroidism | |
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| HP:0000854 | Thyroid adenoma | |
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| HP:0000858 | Menstrual irregularities | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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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:0000957 | Cafe-au-lait spots | |
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| HP:0000963 | Thin skin | |
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| HP:0000978 | Ecchymoses | |
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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:0001003 | Multiple lentigines | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001169 | Broad hands | |
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| HP:0001249 | Mental retardation | |
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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:0001268 | Mental deterioration | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001480 | Freckling | |
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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:0001530 | Growth retardation, mild | |
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| HP:0001533 | Asthenic habitus | "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] |
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| HP:0001541 | Ascites | |
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| HP:0001575 | Mood changes | |
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| HP:0001579 | ACTH-independent hypercortisolemia | |
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| HP:0001580 | Pigmented micronodular adrenocortical disease | |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001847 | Increased length of the hallux | "Increased length of the big toe." [HPO:curators] |
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| HP:0001907 | Thromboembolism | |
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| HP:0001945 | Fever | |
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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:0002286 | Light colored hair | |
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| HP:0002297 | Red hair | |
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| HP:0002331 | Headache (with pheochromocytoma) | |
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| HP:0002516 | Increased intracranial pressure | |
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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:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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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:0002808 | Kyphosis | |
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| HP:0002875 | Exertional dyspnea | |
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| HP:0002890 | Thyroid carcinoma | |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002920 | Decreased serum ACTH | |
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| HP:0002983 | Micromelia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003003 | Colon cancer | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [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:0003118 | Increased serum cortisol | |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003198 | Myopathy | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003388 | Easy fatigability | |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003528 | Elevated calcitonin | |
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| HP:0003674 | Age of onset | |
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| HP:0003764 | Abnormal or excess nevi | |
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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:0004490 | Calvarial hyperostosis | "Excessive growth of the calvarial bone." [HPO:curators] |
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| HP:0004646 | Nasal bone hypoplasia | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0005180 | Tricuspid insufficiency | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005305 | Cerebral venous thrombosis | |
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| HP:0005453 | Absent/hypoplastic paranasal sinuses | |
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| HP:0005587 | Profuse pigmented skin lesions | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0005756 | Epiphyseal stippling in neonates | |
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| HP:0006689 | Bacterial endocarditis susceptible | |
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| HP:0006691 | Pulmonic valve myxoma | |
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| HP:0006744 | Adrenocortical carcinoma | |
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| HP:0006748 | Pheochromocytoma, adrenal | "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] |
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| HP:0006767 | Prolactin-secreting pituitary adenoma | |
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| HP:0006769 | Myxoid subcutaneous tumors | |
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| HP:0007832 | Pigmentation of the sclera | |
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| HP:0008221 | Enlarged adrenal glands | |
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| HP:0008225 | Thyroid follicular hyperplasia | |
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| HP:0008450 | Narrow vertebral interpedicular distance | "A narrowing of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the verterbral body, at the junction of its posterior and lateral surfaces." [HPO:curators] |
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| HP:0008479 | Hypoplastic vertebral bodies | |
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| HP:0008497 | Congenital craniofacial dysostosis | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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| HP:0009588 | Vestibular Schwannoma | "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:curators] |
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| HP:0009593 | Peripheral Schwannoma | "A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010619 | Fibroma of the breast | "A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman." [HPO:curators] |
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| HP:0010655 | Stippling of the epiphyses | "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators] |
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| HP:0010741 | Edema of the lower limbs | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0010784 | Uterine neoplasia | |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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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:0011043 | Abnormality of circulating adrenocorticotropin level | "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0011672 | Cardiac myxoma | "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber." [HPO:probinson, pmid:7477198] |
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| HP:0011760 | Pituitary growth hormone cell adenoma | "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark] |
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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:0012028 | Hepatocellular adenoma | "A benign tumor of the liver of presumably epithelial origin." [HPO:probinson] |
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| HP:0012030 | Increased urinary cortisol level | "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson] |
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| HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0012315 | Histiocytoma | "A neoplasm containing histiocytes." [HPO:probinson] |
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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: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:0030431 | Osteochondroma | "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone." [HPO:probinson, pmid:18271966] |
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| HP:0040086 | Abnormal prolactin level | |
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| HP:0100008 | Abnormality of the Schwann Cells | "An abnormality of the schwann cells, which are glia of the peripheral nervous system (PNS)." [HPO:sdoelken] |
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| HP:0100619 | Sertoli cell neoplasm | "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a ` Sertoli cell` (CL:0000216)." [HPO:probinson] |
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| HP:0100730 | Bronchogenic cyst | "A rare congenital cystic lesion of the lungs in the mediastinum." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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| HP:0100814 | Blue nevus | |
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