Exostoses, multiple, type II

Preferred Label : Exostoses, multiple, type II;

Symbol : EXT2;

CISMeF acronym : EXT2;

Type : Phenotype, molecular basis known;

Description : Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the exostosin 2 gene (EXT2, 133701.0001);

Neoplasia : Increased risk of chondrosarcoma;

Prefixed ID : #133701;

Details

Origin ID

133701;

UMLS CUI

C1851413;

Broader ORDO disease(s)
- Multiple osteochondromas [ORDO Disease]
Currated CISMeF NLP mapping
- exostoses, multiple, type II [MeSH concept]
DO Cross reference
- hereditary multiple exostoses [DO Concept]
Genes related to phenotype
- Exostosin glycosyltransferase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cervical myelopathy [HPO term]
- Childhood onset [HPO term]
- Chondrosarcoma [HPO term]
- Coxa vara [HPO term]
- Genu valgum [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Madelung-like forearm deformities [HPO term]
- Multiple exostoses [HPO term]
- Pelvic bone exostoses [HPO term]
- Peripheral nerve compression [HPO term]
- Protuberances at ends of long bones [HPO term]
- Rib exostoses [HPO term]
- Scapular exostoses [HPO term]
- Short metacarpal [HPO term]
- Short stature [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 II [MeSH concept]

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