| HPO |
HP:0000689 |
Dental malocclusion |
"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] |
— |
HP:0000692 |
| HPO |
HP:0000689 |
Dental malocclusion |
"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [PMID:31468724] |
— |
HP:0000692 |
| HPO |
HP:0010754 |
Abnormality of the temporomandibular joint |
"An anomaly of the temporomandibular joint." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0000324 |
Facial asymmetry |
"An abnormal difference between the left and right sides of the face." [HPO:probinson] |
— |
HP:0001999 |
| HPO |
HP:0000368 |
Low-set, posteriorly rotated ears |
"Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson] |
This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. |
HP:0000358, HP:0000369 |
| HPO |
HP:0008572 |
External ear malformation |
"A malformation of the auricle of the ear." [HPO:probinson] |
— |
HP:0000356 |
| HPO |
HP:0009895 |
Abnormality of the crus of the helix |
"An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [HPO:probinson] |
— |
HP:0011039, HP:3000022 |
| HPO |
HP:0000293 |
Full cheeks |
"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] |
— |
HP:0004426 |
| HPO |
HP:0000183 |
Difficulty in tongue movements |
— |
— |
HP:0000182 |
| HPO |
HP:0030713 |
Vein of Galen aneurysmal malformation |
"Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation." [UToronto:chum] |
— |
HP:0012480 |
| HPO |
HP:0007627 |
Mandibular condyle aplasia |
— |
— |
HP:0005790 |
| HPO |
HP:0000678 |
Dental crowding |
"Changes in alignment of teeth in the dental arch" [PMID:19125428, PMID:31468724] |
Overlapping teeth within an alveolar ridge. |
HP:0000692 |
| HPO |
HP:0002098 |
Respiratory distress |
"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] |
— |
HP:0002094 |
| HPO |
HP:0002870 |
Obstructive sleep apnea |
"A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:probinson] |
— |
HP:0010535 |
| HPO |
HP:0025267 |
Snoring |
"Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping." [] |
— |
HP:0002360, HP:0002793 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| 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:0009902 |
Cleft helix |
"A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [HPO:probinson, PMID:19152421] |
This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. |
HP:0011039 |
| HPO |
HP:0011802 |
Hamartoma of tongue |
"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, PMID:17667541] |
— |
HP:0100648 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0030022 |
Question mark ear |
"Cleft between the helix and the lobe." [eom:cffbc3de49dbb172, PMID:19152421] |
Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. |
HP:0000377 |
| 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:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000193 |
Bifid uvula |
"Uvula separated into two parts most easily seen at the tip." [PMID:19125428] |
— |
HP:0000172, HP:0000185 |
| HPO |
HP:0000384 |
Preauricular skin tag |
"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson] |
— |
HP:0000383, HP:0010609 |