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Items: 10

1.

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. [from HPO]

MedGen UID:
10508
Concept ID:
C0029899
Disease or Syndrome
2.

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. [from HPO]

MedGen UID:
504424
Concept ID:
CN000338
Finding
3.

Conductive hearing impairment

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. [from HPO]

MedGen UID:
504435
Concept ID:
CN000378
Finding
4.

Hearing impairment

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

MedGen UID:
446352
Concept ID:
CN000341
Finding
5.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
6.

Conductive hearing loss

Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES. [from MeSH]

MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
7.

Deafness

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

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
8.

Otosclerosis 1

Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). Genetic Heterogeneity of Otosclerosis The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44. The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis. [from OMIM]

MedGen UID:
833828
Concept ID:
CN032031
Disease or Syndrome
9.

Otosclerosis 8

MedGen UID:
436965
Concept ID:
C2677515
Disease or Syndrome
10.

Otosclerosis 7

MedGen UID:
409738
Concept ID:
C1969044
Disease or Syndrome
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