X-linked VACTERL association

Term ID

DOID:0111766

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. (2)

References

• GARD:8498
• OMIM:314390

Ontology

Human Disease   ( DOID:0111766 )