| HPO |
HP:0000179 |
Thick lower lip vermilion |
"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, PMID:19125428] |
Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. |
HP:0000178, HP:0012471 |
| HPO |
HP:0002021 |
Pyloric stenosis |
"An abnormal narrowing of the pylorus." [HPO:probinson] |
Pyloric stenosis occurs in the first few months of life. |
HP:0004400 |
| HPO |
HP:0002307 |
Drooling |
"Habitual flow of saliva out of the mouth." [HPO:probinson, PMID:15202698] |
— |
HP:0000708, HP:0003781 |
| 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:0002245 |
Meckel diverticulum |
"Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [HPO:probinson] |
— |
HP:0001549 |
| HPO |
HP:0003487 |
Babinski sign |
"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
A positive Babinski sign can indicate damage to the corticospinal tract. |
HP:0007256, HP:0031828 |
| HPO |
HP:0008504 |
Moderate sensorineural hearing impairment |
"The presence of a moderate form of sensorineural hearing impairment." [HPO:probinson] |
— |
HP:0000407, HP:0012713 |
| HPO |
HP:0008587 |
Mild neurosensory hearing impairment |
"The presence of a mild form of sensorineural hearing impairment." [HPO:probinson] |
A neurosensory hearing loss with a deficit of 21-40 dB. |
HP:0000407, HP:0012712 |
| HPO |
HP:0000020 |
Urinary incontinence |
"Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, PMID:12559262] |
Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. |
HP:0000009, HP:0031064 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0002121 |
Generalized non-motor (absence) seizure |
"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features." [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064] |
in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. |
HP:0002197, HP:0011146, HP:0033259 |
| HPO |
HP:0005824 |
Clinodactyly of the 2nd toe |
"Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] |
— |
HP:0001863, HP:0010326 |
| HPO |
HP:0002342 |
Intellectual disability, moderate |
"Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
— |
HP:0001249 |
| HPO |
HP:0000684 |
Delayed eruption of teeth |
"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, PMID:19125428, PMID:31468724] |
This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. |
HP:0006292 |
| HPO |
HP:0000729 |
Autistic behavior |
"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490] |
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. |
HP:0000708 |
| HPO |
HP:0004691 |
2-3 toe syndactyly |
"Syndactyly with fusion of toes two and three." [HPO:sdoelken] |
— |
HP:0001770 |
| HPO |
HP:0000629 |
Periorbital fullness |
"Increase in periorbital soft tissue." [HPO:sdoelken] |
— |
HP:0000606 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0002069 |
Bilateral tonic-clonic seizure |
"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [HPO:pnrobinson, PMID:28276060] |
A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. |
HP:0001250 |
| HPO |
HP:0002465 |
Poor speech |
— |
— |
HP:0002167 |
| HPO |
HP:0007018 |
Attention deficit hyperactivity disorder |
"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
— |
HP:0000736, HP:0000752 |
| 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:0000455 |
Broad nasal tip |
"Increase in width of the nasal tip." [HPO:probinson, PMID:19152422] |
Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. |
HP:0000436, HP:0000463 |
| 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:0000256 |
Macrocephaly |
"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] |
Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. |
HP:0040194 |