Hereditary multiple exostoses
cv_term_accession
KW-0361
canonical
uniprot_keyword
KW-0361
canonical
name
Hereditary multiple exostoses
uniprot
definition
Protein which, if defective, causes hereditary multiple exostoses (EXT). It is an autosomal dominant disease characterized by the formation of cartilage-capped benign tumors (exostoses), developing from the juxtaepiphyseal regions of the long bones and often accompanied by skeletal deformities and short stature.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords