Term Name: | X-linked VACTERL association |
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Synonyms: | VACTERL association, X-linked with or without hydrocephalus, VACTERLX |
Definition: | A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. |
Ontology: | Human Disease [DOID:0111766] ( DOID:0111766 ) |