| HPO |
HP:0002213 |
Fine hair |
"Hair that is fine or thin to the touch." [HPO:probinson] |
— |
HP:0010719 |
| HPO |
HP:0000722 |
Obsessive-compulsive behavior |
"Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson] |
— |
HP:0000708 |
| HPO |
HP:0040195 |
Decreased head circumference |
"An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean." [PMID:26505062] |
Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. |
HP:0000240 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0001256 |
Intellectual disability, mild |
"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] |
— |
HP:0001249 |
| HPO |
HP:0001808 |
Fragile nails |
"Nails that easily break." [HPO:probinson] |
— |
HP:0001597 |
| HPO |
HP:0030084 |
Clinodactyly |
"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [PMID:16252026] |
— |
HP:0011297 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| 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:0410263 |
Brain imaging abnormality |
"An anomaly of metabolism or structure of the brain identified by imaging." [] |
— |
HP:0012638 |
| HPO |
HP:0001382 |
Joint hypermobility |
"The ability of a joint to move beyond its normal range of motion." [HPO:probinson] |
— |
HP:0011729 |
| 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:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| HPO |
HP:0032059 |
Mild malformation of cortical development |
"A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter." [COST:neuromig, PMID:21219302] |
— |
HP:0002539 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| HPO |
HP:0000736 |
Short attention span |
"Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0006989 |
Dysplastic corpus callosum |
"Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [HPO:probinson, PMID:21263138] |
— |
HP:0001273 |
| HPO |
HP:0009778 |
Short thumb |
"Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] |
— |
HP:0009381, HP:0009601 |
| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0002360 |
Sleep disturbance |
"An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
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, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| 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:0000324 |
Facial asymmetry |
"An abnormal difference between the left and right sides of the face." [HPO:probinson] |
— |
HP:0001999 |