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Items: 16

1.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Disease or Syndrome; Finding
2.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
3.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
5453
Concept ID:
C0018772
Finding
4.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Functional Concept
5.

Deafness, autosomal recessive 3

Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]

MedGen UID:
325373
Concept ID:
C1838263
Disease or Syndrome
6.

Protrusion

MedGen UID:
90702
Concept ID:
C0333056
Anatomical Abnormality
7.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Dysacusis

MedGen UID:
267601
Concept ID:
C1510450
Sign or Symptom
9.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Finding
10.

Deafness, Acquired

MedGen UID:
196717
Concept ID:
C0751068
Disease or Syndrome
11.

Hearing problem

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [from MeSH]

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
12.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
13.

Sensation Disorders

Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM). [from MeSH]

MedGen UID:
19934
Concept ID:
C0036659
Disease or Syndrome
14.

Otorhinolaryngologic Diseases

Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. [from MeSH]

MedGen UID:
18227
Concept ID:
C0029896
Disease or Syndrome
15.

Neurologic Manifestations

Clinical signs and symptoms caused by nervous system injury or dysfunction. [from MeSH]

MedGen UID:
18017
Concept ID:
C0027854
Finding
16.

Disorder of ear

Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped organ. The inner ear makes the nerve impulses that are sent to the brain. Your brain recognizes them as sounds. The inner ear also controls balance. A variety of conditions may affect your hearing or balance:. -Ear infections are the most common illness in infants and young children. -Tinnitus, a roaring in your ears, can be the result of loud noises, medicines or a variety of other causes. -Meniere's disease may be the result of fluid problems in your inner ear; its symptoms include tinnitus and dizziness. -Ear barotrauma is an injury to your ear because of changes in barometric (air) or water pressure. Some ear disorders can result in hearing disorders and deafness.  [from MedlinePlus]

MedGen UID:
3946
Concept ID:
C0013447
Disease or Syndrome
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