Preferred Label : Otosclerosis 5;
Symbol : OTSC5;
CISMeF acronym : OTSC5;
Type : Phenotype or locus, molecular basis unknown;
Description : For a phenotypic description and a discussion of the genetic heterogeneity of otosclerosis,
see OTSC1 (166800). In a Dutch pedigree segregating autosomal dominant otosclerosis
over 4 generations, Van Den Bogaert et al. (2004) found linkage to an interval on
chromosome 3q22-q24, with a maximum 2-point lod score of 3.46 (theta 0.05) for marker
D3S1569. Recombination events delineated a 15.5-Mb candidate interval between markers
D3S1292 and D3S1744. *FIELD* RF 1. Van Den Bogaert, K.; De Leenheer, E. M. R.; Chen,
W.; Lee, Y.; Nurnberg, P.; Pennings, R. J. E.; Vanderstraeten, K.; Thys, M.; Cremers,
C. W. R. J.; Smith, R. J. H.; Van Camp, G.: A fifth locus for otosclerosis,;
Prefixed ID : %608787;
Origin ID : 608787;
UMLS CUI : C1837422;
Currated CISMeF NLP mapping
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
