| HPO |
HP:0001763 |
Pes planus |
"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, PMID:19125433] |
'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) |
HP:0001760 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |
| HPO |
HP:0001761 |
Pes cavus |
"The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, PMID:19125433] |
— |
HP:0001760 |
| 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:0002616 |
Aortic root aneurysm |
"An abnormal localized widening (dilatation) of the aortic root." [] |
— |
HP:0012727 |
| HPO |
HP:0001765 |
Hammertoe |
"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433] |
— |
HP:0001780 |
| 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:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0000275 |
Narrow face |
"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [PMID:19125436] |
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. |
HP:0000274 |
| HPO |
HP:0001519 |
Disproportionate tall stature |
"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] |
— |
HP:0000098 |
| HPO |
HP:0002647 |
Aortic dissection |
"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:probinson] |
— |
HP:0001679 |
| HPO |
HP:0003179 |
Protrusio acetabuli |
"Intrapelvic bulging of the medial acetabular wall." [HPO:probinson] |
Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. |
HP:0003170 |
| HPO |
HP:0025586 |
Hypertropia |
"A type of strabismus characterized by permanent upward deviation of the visual axis of one eye." [ORCID:0000-0003-0986-4123] |
— |
HP:0025587, HP:0032012 |
| HPO |
HP:0008132 |
Medial rotation of the medial malleolus |
— |
— |
HP:0001760 |
| HPO |
HP:0000276 |
Long face |
"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [PMID:19125436] |
Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. |
HP:0100729 |
| HPO |
HP:0001786 |
Narrow foot |
"A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [PMID:19125433] |
— |
HP:0001760 |
| 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:0004872 |
Incisional hernia |
"An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [HPO:probinson] |
— |
HP:0004299 |
| HPO |
HP:0000189 |
Narrow palate |
"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [PMID:19125428] |
Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. |
HP:0000174 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| HPO |
HP:0008138 |
Equinus calcaneus |
"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [HPO:probinson] |
— |
HP:0008364 |
| HPO |
HP:0007676 |
Hypoplasia of the iris |
"Congenital underdevelopment of the iris." [HPO:probinson] |
— |
HP:0008053 |
| HPO |
HP:0000565 |
Esotropia |
"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson] |
Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. |
HP:0020045, HP:0032012 |
| HPO |
HP:0032934 |
Spontaneous cerebrospinal fluid leak |
"A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak)." [PMID:19225307, PMID:22929030] |
— |
HP:0010651 |
| HPO |
HP:0003088 |
Premature osteoarthritis |
— |
— |
HP:0002758 |