| HPO |
HP:0009381 |
Short finger |
"Abnormally short finger associated with developmental hypoplasia." [HPO:probinson] |
— |
HP:0005922, HP:0006265, HP:0011927 |
| HPO |
HP:0100693 |
Iridodonesis |
"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken] |
— |
HP:0000525 |
| HPO |
HP:0000327 |
Hypoplasia of the maxilla |
"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson] |
— |
HP:0000326 |
| 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:0001156 |
Brachydactyly |
"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [HPO:probinson] |
— |
HP:0011927 |
| HPO |
HP:0001537 |
Umbilical hernia |
"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] |
— |
HP:0001551, HP:0004299 |
| 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:0001653 |
Mitral regurgitation |
"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
— |
HP:0031481 |
| 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:0005280 |
Depressed nasal bridge |
"Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422] |
The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. |
HP:0000422 |
| 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:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0001538 |
Protuberant abdomen |
"A thrusting or bulging out of the abdomen." [HPO:probinson] |
— |
HP:0003270 |
| HPO |
HP:0006482 |
Abnormality of dental morphology |
"An abnormality of the morphology of the tooth." [HPO:ibailleulforestier] |
— |
HP:0000164 |
| HPO |
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] |
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. |
HP:0000174 |
| HPO |
HP:0001629 |
Ventricular septal defect |
"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] |
— |
HP:0010438 |
| HPO |
HP:0002753 |
Thin bony cortex |
"Abnormal thinning of the cortical region of bones." [HPO:curators] |
— |
HP:0003103 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed 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] |
— |
HP:0000927 |
| HPO |
HP:0000692 |
Tooth malposition |
"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier] |
— |
HP:0000164 |
| HPO |
HP:0003416 |
Spinal canal stenosis |
"An abnormal narrowing of the spinal canal." [HPO:probinson] |
Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. |
HP:0000925 |
| HPO |
HP:0001256 |
Intellectual disability, mild |
"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] |
— |
HP:0001249 |
| 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:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0000483 |
Astigmatism |
"A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123] |
The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. |
HP:0000539, HP:0100691 |
| HPO |
HP:0001783 |
Broad metatarsal |
"Increased side-to-side width of a metatarsal bone." [HPO:probinson] |
— |
HP:0001832 |