| 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:0000117 | Decreased renal tubular phosphate reabsorption | |
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| HP:0000121 | Nephrocalcinosis | |
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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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000474 | Excess nuchal skin | |
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| HP:0000488 | Retinopathy | |
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| HP:0000505 | Impaired vision | |
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| HP:0000545 | Myopia | |
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| HP:0000573 | Retinal hemorrhage | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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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:0000821 | Hypothyroidism | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001012 | Lipomas | "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators] |
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| HP:0001061 | Acne | |
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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:0001102 | Angioid streaks | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001507 | Growth abnormality | |
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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:0001645 | Sudden cardiac death | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001717 | Coronary artery calcification | |
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| HP:0001723 | Restrictive cardiomyopathy | |
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| HP:0001872 | Abnormality of thrombocytes | |
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| HP:0002024 | Malabsorption | |
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| HP:0002172 | Postural instability | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002617 | Aneurysm | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002653 | Bone pain | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002812 | Coxa vara | |
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| HP:0002970 | Genu varum | |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003020 | Enlargement of the wrists | |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0004306 | Abnormality of the endocardium | "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson] |
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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:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004576 | Sclerotic vertebral endplates | "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] |
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| HP:0004912 | hypophosphatemic rickets | |
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| HP:0004940 | Arterial calcification, generalized | |
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| HP:0005096 | distal femoral bowing | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005764 | Polyarticular arthritis | |
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| HP:0006463 | Rickets of the lower limbs | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0008732 | Renal hypophosphatemia | |
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| HP:0010639 | Elevated alkaline phosphatase of bone origin | "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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| HP:0011036 | Abnormality of renal excretion | "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson] |
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| HP:0012052 | Low serum calcitriol (1,25-dihydroxycholecalciferol) | "A reduced concentration of `calcitriol` (CHEBI:17823) in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson] |
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| HP:0012508 | Metamorphopsia | "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson] |
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| HP:0025092 | Epidermal acanthosis | "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] |
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| HP:0025114 | Hypergranulosis | "Hypergranulosis is an increased thickness of the stratum granulosum." [] |
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| HP:0025477 | Periarticular calcification | "Calcified deposits in soft tissue structures outside a joint." [] |
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| HP:0030757 | Tooth abscess | "A pocket of pus located within a region of a tooth." [HPO:probinson] |
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| HP:0100036 | Pseudo-fractures | "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. The formation of callouses in the affected area is common and gives the appearance of a false fracture." [HPO:sdoelken] |
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| HP:0100545 | Arterial stenosis | |
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| HP:0100559 | Lower limb asymmetry | |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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| HP:0100671 | Abnormality of bone trabeculation | |
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| HP:0100686 | Enthesitis | |
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| HP:0100781 | Abnormality of the sacroiliac joint | |
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