| HPO |
HP:0001513 |
Obesity |
"Accumulation of substantial excess body fat." [] |
— |
HP:0004324 |
| 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:0000664 |
Synophrys |
"Meeting of the medial eyebrows in the midline." [PMID:19125427] |
— |
HP:0000534, HP:0002219 |
| 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:0011463 |
Childhood onset |
"Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
This term refers to ages up to but not including the fifth birthday (see Juvenile onset). |
HP:0410280 |
| 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:0001417 |
X-linked inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
— |
HP:0010985 |
| HPO |
HP:0011220 |
Prominent forehead |
"Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436] |
Not to be confused with frontal bossing. |
HP:0000290 |
| HPO |
HP:0000400 |
Macrotia |
"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] |
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. |
HP:0000377 |
| HPO |
HP:0000283 |
Broad face |
"Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [PMID:19125436] |
Note that broad face is distinct from round face. |
HP:0100729 |
| HPO |
HP:0001270 |
Motor delay |
"A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] |
— |
HP:0012758 |
| 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: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 |