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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 ZIC3 on chromosome Xq26.3 or FANCB 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 6:75,793,223...75,873,854
Ensembl chr 6:75,793,960...75,874,235
JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
CTD
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked ClinVar PMID:25754594 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H
ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly
CTD
ClinVar
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17942903, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21828076, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr19:23,387,737...23,405,025
Ensembl chr19:23,389,375...23,405,039
JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked
ClinVar Annotator: match by OMIM:314390
OMIM
ClinVar
PMID:2629409, PMID:14681828, PMID:17764085, PMID:23427188, PMID:24033266, PMID:24123890, PMID:25741868, PMID:26294094, PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      VACTERL association 17
        X-linked VACTERL association 6
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    Macrocephaly 84
                      X-linked VACTERL association 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.