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Results: 1 to 20 of 39

1.

Complete deafness

MedGen UID:
108418
Concept ID:
C0581883
Finding
2.

Deafness

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

MedGen UID:
4155
Concept ID:
C0011053
Finding
3.

Hearing impairment

A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605). [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
4.

Waardenburg's syndrome

A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. [from NCI]

MedGen UID:
473809
Concept ID:
C3266898
Congenital Abnormality
5.

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
6.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Waardenburg syndrome

Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. [from ORDO]

MedGen UID:
799073
Concept ID:
CN204428
Disease or Syndrome
8.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
9.

Error occurred: cannot get document summary

ID:
489942

10.

Deafness, autosomal recessive 1A

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital, non-progressive, mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

MedGen UID:
388720
Concept ID:
C2673759
Disease or Syndrome
11.

Waardenburg syndrome type 1

Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs. [from GeneReviews]

MedGen UID:
376211
Concept ID:
C1847800
Disease or Syndrome
12.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
13.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422
14.

Waardenburg's syndrome

MedGen UID:
21896
Concept ID:
C0043008
Disease or Syndrome
15.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
16.

Dysacusis

MedGen UID:
267601
Concept ID:
C1510450
Sign or Symptom
17.

Deafness, Acquired

MedGen UID:
196717
Concept ID:
C0751068
Disease or Syndrome
18.

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
19.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
20.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function

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