| HPO |
HP:0000272 |
Malar flattening |
"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436] |
The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"} |
HP:0012369 |
| HPO |
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:probinson] |
— |
HP:0001376 |
| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| HPO |
HP:0009918 |
Ectopia pupillae |
"A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson] |
— |
HP:0000615 |
| HPO |
HP:0000822 |
Hypertension |
"The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] |
Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. |
HP:0032263 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0000787 |
Nephrolithiasis |
"The presence of calculi (stones) in the kidneys." [HPO:probinson] |
Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. |
HP:0012210 |
| HPO |
HP:0001376 |
Limitation of joint mobility |
"A reduction in the freedom of movement of one or more joints." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0001072 |
Thickened skin |
"Laminar thickening of skin." [HPO:sdoelken] |
— |
HP:0011121 |
| HPO |
HP:0003119 |
Abnormal circulating lipid concentration |
"Any deviation from the normal concentration of a lipid in the blood circulation." [HPO:probinson] |
According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. |
HP:0032180 |
| HPO |
HP:0000822 |
Hypertension |
"The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] |
Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. |
HP:0032263 |
| HPO |
HP:0007328 |
Impaired pain sensation |
"Reduced ability to perceive painful stimuli." [HPO:probinson] |
— |
HP:0010832 |
| HPO |
HP:0000501 |
Glaucoma |
"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, PMID:11815354] |
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. |
HP:0012373 |
| HPO |
HP:0001482 |
Subcutaneous nodule |
"Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] |
Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. |
HP:0200036 |
| HPO |
HP:0008065 |
Aplasia/Hypoplasia of the skin |
— |
— |
HP:0011355 |
| HPO |
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, PMID:19125436] |
— |
HP:0000309 |
| HPO |
HP:0001324 |
Muscle weakness |
"Reduced strength of muscles." [HPO:probinson, PMID:15832536] |
It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. |
HP:0011804 |
| HPO |
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:sdoelken] |
Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. |
HP:0012638 |
| HPO |
HP:0100679 |
Lack of skin elasticity |
— |
— |
HP:0010647 |
| HPO |
HP:0000407 |
Sensorineural hearing impairment |
"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] |
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). |
HP:0000365, HP:0011389 |
| HPO |
HP:0100578 |
Lipoatrophy |
"Localized loss of fat tissue." [HPO:sdoelken] |
This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. |
HP:0009125 |
| HPO |
HP:0000541 |
Retinal detachment |
"Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0004322 |
Short stature |
"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] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0005978 |
Type II diabetes mellitus |
"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] |
Persons with type II diabetes mellitus rarely develop ketoacidosis. |
HP:0000819 |
| HPO |
HP:0002823 |
Abnormality of femur morphology |
"Any anomaly of the structure of the femur." [HPO:probinson] |
The femur (plural: femora) is the thigh bone. |
HP:0040069 |