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Items: 18

1.

Deafness

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
2.

Hearing impairment

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

MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
3.

Hearing impairment

MedGen UID:
5453
Concept ID:
C0018772
Finding
4.

Deafness, autosomal recessive 2

MedGen UID:
325485
Concept ID:
C1838701
Disease or Syndrome
5.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
6.

Dysacousia

MedGen UID:
267601
Concept ID:
C1510450
Sign or Symptom
7.

Deafness, Acquired

MedGen UID:
196717
Concept ID:
C0751068
Disease or Syndrome
8.

Hearing problem

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
9.

Paracusis

Altered sense of hearing, other than simple decreased hearing or deafness [from SNOMEDCT_US]

MedGen UID:
57838
Concept ID:
C0155536
Sign or Symptom
10.

Clinical finding

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

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
11.

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
12.

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
13.

Neurologic Manifestations

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

MedGen UID:
18017
Concept ID:
C0027854
Finding
14.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
15.

Disorder of ear

A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas. [from NCI]

MedGen UID:
3946
Concept ID:
C0013447
Disease or Syndrome
16.

Consanguinity

The magnitude of INBREEDING in humans. [from MeSH]

MedGen UID:
3213
Concept ID:
C0009789
Finding
17.

Deafness, autosomal recessive 5

MedGen UID:
331485
Concept ID:
C1833319
Disease or Syndrome
18.

Deafness, autosomal recessive 6

MedGen UID:
322088
Concept ID:
C1832992
Disease or Syndrome
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