Exostoses, multiple, type III

Preferred Label : Exostoses, multiple, type III;

Symbol : EXT3;

CISMeF acronym : EXT3;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see (133700). In a child with multiple exostoses with an interstitial deletion of chromosome 11, Le Merrer et al. (1994) excluded linkage to markers in the region 11p12-p11. However, the locus they termed 'EXT2' was mapped to 19p by linkage to a microsatellite DNA marker at the D19S221 locus. In studies of 21 families, they found a maximum location score of 7.22 with a proportion of families (35%) linked to chromosome 19 and a proportion of families (65%) linked to chromosome 8. Their data supported the location of EXT1 distal to D8S198 and the location of the other gene, designated EXT3, between D19S413 and D19S221. Le Merrer et al. (1994) suggested that the close linkage of EXT3 to the;

Inheritance : Autosomal dominant (19p);

Prefixed ID : %600209;

Details

Origin ID

600209;

UMLS CUI

C1838420;

Broader ORDO disease(s)
- Multiple osteochondromas [ORDO Disease]
Currated CISMeF NLP mapping
- exostoses, multiple, type III [MeSH concept]
- exostoses, multiple, type III [MeSH Supplementary Concept]
DO Cross reference
- hereditary multiple exostoses [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Multiple exostoses [HPO term]
ORDO concept(s)
- Multiple osteochondromas [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- exostoses, multiple, type III [MeSH Supplementary Concept]
- exostoses, multiple, type III [MeSH concept]

Keyword's position in hierarchy(ies) :

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