Metadata | |
---|---|
ID | DOID:0111766 |
Name | X-linked VACTERL association |
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. https://www.ncbi.nlm.nih.gov/pubmed/15502827, https://www.ncbi.nlm.nih.gov/pubmed/20452998 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
VACTERL association, X-linked with or without hydrocephalus [EXACT] VACTERLX [EXACT] |
Parent Relationships |
is_a VACTERL association |