Otosclerosis 1

Preferred Label : Otosclerosis 1;

Symbol : OTSC1;

CISMeF acronym : OTSC1; OTS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : OTS;

Description : 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;

Inheritance : Autosomal dominant with reduced penetrance;

Prefixed ID : %166800;

Details

Origin ID

166800;

UMLS CUI

C4551901;

Automatic exact mappings (from CISMeF team)
- 2-toluenesulfonamide [MeSH concept]
- 2-toluenesulfonamide [MeSH Supplementary Concept]
- Familial otosclerosis [ORDO Disease]
- OXT wt Allele [NCIt concept]
- occipitotemporal sulcus [UBERON concept]
- otosclerosis 1 [HGNC gene]
- toluene-2-sulphonamide [Substance BNPC]
Broader ORDO disease(s)
- Familial otosclerosis [ORDO Disease]
DO Cross reference
- otosclerosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal dominant with reduced penetrance [HPO term]
- Conductive hearing impairment [HPO term]
- Otosclerosis [HPO term]
ORDO concept(s)
- Familial otosclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- OTOSCLEROSIS [WHO-ART Preferred Term]
- Otosclerosis [ICD-10 category (who)]
- Otosclerosis [MedDRA Preferred Term]
- Otosclerosis [ICD-10 category]
- Otosclerosis [HPO term]
- Otosclerosis [PASCAL descriptor]
- Otosclerosis [ICD-9 code]
- Otosclerosis (disorder) [SNOMED CT concept]
- Otosclerosis, unspecified [ICD-9 code]
- Otosclerosis, unspecified [MedDRA LLT]
- Otospongiosis [MedDRA LLT]
- Unspecified otosclerosis [ICD-10 Sub-category]
- otosclerosis [ICPC-2 Rubric]
- otosclerosis [MeSH Descriptor]
- otosclerosis [MeSH concept]
- otosclerosis [Radlex concept]
- otosclerosis [Disease (Nov.)]
- otosclerosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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