| HPO |
HP:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| HPO |
HP:0001083 |
Ectopia lentis |
"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] |
— |
HP:0000517 |
| HPO |
HP:0001634 |
Mitral valve prolapse |
"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] |
Mitral valve prolapse can be associated with mitral regurgitation. |
HP:0001633 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0001265 |
Hyporeflexia |
"Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] |
— |
HP:0001315 |
| HPO |
HP:0002097 |
Emphysema |
— |
— |
HP:0002088 |
| HPO |
HP:0001704 |
Tricuspid valve prolapse |
"One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson] |
— |
HP:0001702 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0000268 |
Dolichocephaly |
"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [HPO:probinson, PMID:19125436] |
Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). |
HP:0002648 |
| HPO |
HP:0002097 |
Emphysema |
— |
— |
HP:0002088 |
| HPO |
HP:0100625 |
Enlarged thorax |
— |
— |
HP:0001547 |
| HPO |
HP:0000431 |
Wide nasal bridge |
"Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, PMID:19152422] |
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. |
HP:0000422 |
| HPO |
HP:0005180 |
Tricuspid regurgitation |
"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson] |
This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). |
HP:0031651 |
| HPO |
HP:0008124 |
Talipes calcaneovarus |
"A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [HPO:probinson] |
— |
HP:0001883 |
| 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:0004970 |
Ascending tubular aorta aneurysm |
"An abnormal localized widening (dilatation) of the tubular part of the ascending aorta." [] |
Aneurysm is considered a severe form of dilatation. |
HP:0012727 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000768 |
Pectus carinatum |
"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson] |
— |
HP:0000766 |
| HPO |
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] |
Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). |
HP:0031657 |
| HPO |
HP:0000490 |
Deeply set eye |
"An eye that is more deeply recessed into the plane of the face than is typical." [PMID:19125427] |
This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. |
HP:0100886 |
| HPO |
HP:0001166 |
Arachnodactyly |
"Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] |
— |
HP:0001238, HP:0100807 |
| HPO |
HP:0000592 |
Blue sclerae |
"An abnormal bluish coloration of the sclera." [HPO:probinson] |
— |
HP:0000591 |
| 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 |