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X-linked VACTERL association
Summary
- Synonym
-
- 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.
- Super Class
- VACTERL association X-linked recessive disease
External Links
- Disease Ontology
- DOID:0111766
- Mondo Disease Ontology
- OMIM
- GARD
