Otosclerosis 3

Preferred Label : Otosclerosis 3;

Symbol : OTSC3;

CISMeF acronym : OTSC3;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of otosclerosis, see OTSC1 (166800).;

Inheritance : Autosomal dominant;

Prefixed ID : %608244;

Détails

Origin ID

608244;

UMLS CUI

C1842353;

Broader ORDO disease(s)
- Familial otosclerosis [ORDO Disease]
Currated CISMeF NLP mapping
- otosclerosis 3 [MeSH concept]
- otosclerosis 3 [MeSH Supplementary Concept]
DO Cross reference
- otosclerosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hearing impairment [HPO term]
- Incomplete penetrance [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 3 [MeSH Supplementary Concept]
- otosclerosis 3 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients