| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0000346 |
Whistling appearance |
"An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, PMID:856233] |
— |
HP:0000205 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0000349 |
Widow's peak |
"Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [PMID:19125436] |
The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. |
HP:0009890 |
| HPO |
HP:0000350 |
Small forehead |
"The presence of a forehead that is abnormally small." [HPO:curators] |
— |
HP:0000290 |
| HPO |
HP:0000356 |
Abnormality of the outer ear |
"An abnormality of the external ear." [HPO:probinson] |
— |
HP:0031703 |
| HPO |
HP:0000357 |
Abnormal location of ears |
"Abnormal location of the ear." [HPO:probinson] |
— |
HP:0000356 |
| HPO |
HP:0000358 |
Posteriorly rotated ears |
"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson, PMID:19152421] |
Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. |
HP:0000357 |
| HPO |
HP:0000359 |
Abnormality of the inner ear |
"An abnormality of the inner ear." [HPO:probinson] |
— |
HP:0031703 |
| HPO |
HP:0000360 |
Tinnitus |
"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
— |
HP:0000364 |
| HPO |
HP:0000361 |
obsolete Pulsatile tinnitus (tympanic paraganglioma) |
— |
— |
— |
| HPO |
HP:0000362 |
Otosclerosis |
"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [HPO:probinson, PMID:15931303] |
Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. |
HP:0008628 |
| HPO |
HP:0000363 |
Abnormality of earlobe |
"An abnormality of the lobule of pinna." [HPO:probinson] |
— |
HP:0000377 |
| HPO |
HP:0000364 |
Hearing abnormality |
"An abnormality of the sensory perception of sound." [HPO:probinson] |
According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. |
HP:0031704 |
| 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:0000366 |
Abnormality of the nose |
"An abnormality of the nose." [HPO:probinson] |
— |
HP:0000271 |
| 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:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0000370 |
Abnormality of the middle ear |
"An abnormality of the middle ear." [HPO:probinson] |
— |
HP:0031703 |
| HPO |
HP:0000371 |
Acute otitis media |
"Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson] |
— |
HP:0000388 |
| HPO |
HP:0000372 |
Abnormality of the auditory canal |
"An abnormality of the External acoustic tube (also known as the auditory canal)." [HPO:probinson] |
— |
HP:0000356 |
| HPO |
HP:0000375 |
Abnormal cochlea morphology |
"An abnormality of the cochlea." [HPO:probinson] |
The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. |
HP:0011390 |
| HPO |
HP:0000376 |
Incomplete partition of the cochlea type II |
"IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [HPO:probinson, PMID:21849370] |
— |
HP:0011373 |
| HPO |
HP:0000377 |
Abnormality of the pinna |
"An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson] |
The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. |
HP:0000356 |