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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:Verheij Syndrome
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Accession:DOID:9003952 term browser browse the term
Synonyms:exact_synonym: VRJS;   chromosome 8q24.3 deletion syndrome
 primary_id: OMIM:615583
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Verheij Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by OMIM:615583
ClinVar Annotator: match by term: Verheij syndrome
OMIM
ClinVar
PMID:10606266, PMID:10668799, PMID:17579712, PMID:18414213, PMID:19348700, PMID:19464398, PMID:19854944, PMID:24140112, PMID:24253303, PMID:25741868, PMID:27804958, PMID:28074499, PMID:28135719, PMID:28327570, PMID:28471317, PMID:28990276, PMID:29300383 NCBI chr 7:117,129,237...117,140,234
Ensembl chr 7:117,129,237...117,140,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Verheij Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Verheij Syndrome 1
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.