| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0000824 |
Decreased response to growth hormone stimulation test |
"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests." [HPO:probinson, PMID:25914878] |
GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. |
HP:0000830, HP:0032367 |
| HPO |
HP:0012171 |
Stereotypical hand wringing |
"Habitual clasping and squeezing of the hands." [HPO:probinson] |
— |
HP:0000733 |
| HPO |
HP:0001822 |
Hallux valgus |
"Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
— |
HP:0010051 |
| HPO |
HP:0001182 |
Tapered finger |
"The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433] |
— |
HP:0100807 |
| HPO |
HP:0010819 |
Atonic seizure |
"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature." [HPO:jalbers, HPO:probinson, ORCID:0000-0002-1735-8178, PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. |
HP:0020219 |
| HPO |
HP:0000687 |
Widely spaced teeth |
"Increased spaces (diastemata) between most of the teeth in the same dental arch." [PMID:19125428] |
Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. |
HP:0000692 |
| HPO |
HP:0011917 |
Short 5th toe |
"Underdevelopment (hypoplasia) of the fifth toe." [HPO:probinson] |
— |
HP:0001831 |
| HPO |
HP:0002136 |
Broad-based gait |
"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
— |
HP:0001288 |
| HPO |
HP:0001562 |
Oligohydramnios |
"Diminished amniotic fluid volume in pregnancy." [HPO:probinson] |
Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. |
HP:0001560 |
| HPO |
HP:0002808 |
Kyphosis |
"Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0003429 |
CNS hypomyelination |
"Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [HPO:probinson] |
— |
HP:0011400 |
| HPO |
HP:0010442 |
Polydactyly |
"A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] |
— |
HP:0011297 |
| HPO |
HP:0001999 |
Abnormal facial shape |
"An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] |
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. |
HP:0000271 |
| HPO |
HP:0011069 |
Supernumerary tooth |
"The presence of one or more teeth additional to the normal number." [HPO:ibailleulforestier, PMID:31468724] |
Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens. |
HP:0006483 |
| HPO |
HP:0040188 |
Osteochondrosis |
"Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification." [] |
— |
HP:0001367, HP:0100323 |
| 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:0001641 |
Abnormal pulmonary valve morphology |
"Any structural abnormality of the pulmonary valve." [HPO:probinson] |
— |
HP:0001654 |
| HPO |
HP:0000718 |
Aggressive behavior |
"Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
— |
HP:0006919 |
| HPO |
HP:0011822 |
Broad chin |
"Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [PMID:19125436] |
— |
HP:0000306 |
| HPO |
HP:0002019 |
Constipation |
"Infrequent or difficult evacuation of feces." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0001659 |
Aortic regurgitation |
"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] |
— |
HP:0031652 |
| HPO |
HP:0011757 |
Posterior pituitary hypoplasia |
"Underdevelopment of the neurohypophysis." [DDD:spark] |
— |
HP:0011753 |
| HPO |
HP:0000411 |
Protruding ear |
"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] |
— |
HP:0000377 |
| HPO |
HP:0011470 |
Nasogastric tube feeding in infancy |
"Feeding problem necessitating nasogastric tube feeding." [DDD:ncarter] |
This is a severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |