Williams-Beuren syndrome
cv_term_accession
KW-0856
canonical
uniprot_keyword
KW-0856
canonical
name
Williams-Beuren syndrome
uniprot
synonym
WBS
uniprot
definition
Protein which, if defective, causes Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. It is a rare developmental autosomal dominant disorder characterized by cardiovascular abnormalities, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia.
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keywords
is_obsolete
false
uniprot
keywords
ontology_id
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keywords