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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:X-linked VACTERL association
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Accession:DOID:0111766 term browser browse the term
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. (DO)
Synonyms:exact_synonym: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;   VACTERL association with hydrocephaly;   VACTERL association with hydrocephaly, X-linked;   VACTERL hydrocephaly;   VACTERL-H;   VACTERL-H, X-Linked;   VACTERL/VATER Association with Hydrocephalus;   VACTERLX;   VATER Association with Hydrocephalus;   X-linked VACTERL association with hydrocephalus;   X-linked VACTERL-H syndrome
 narrow_synonym: VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS;   VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY
 related_synonym: VATER/VACTERL association with CNS malformations
 primary_id: MESH:C564751;   MESH:C564752
 alt_id: OMIM:276950;   OMIM:314390
 xref: GARD:8498


show annotations for term's descendants           Sort by:
X-linked VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    syndrome 9945
      VACTERL association 20
        X-linked VACTERL association 6
Path 2
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13237
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12324
        genetic disease 11991
          monogenic disease 10030
            autosomal genetic disease 9259
              autosomal dominant disease 6128
                complex cortical dysplasia with other brain malformations 1572
                  Malformations of Cortical Development, Group I 1355
                    Macrocephaly 85
                      X-linked VACTERL association 6
paths to the root