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Verheij Syndrome - Ontology Report - Rat Genome Database

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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: INTELLECTUAL DISABILITY-CARDIAC ANOMALIES-SHORT STATURE-JOINT LAXITY SYNDROME;   VRJS;   chromosome 8q24.3 deletion syndrome
 primary_id: MIM:615583

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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 LOC126860549 MED14-independent group 3 enhancer GRCh37_chr8:144911577-144912776 IAGP ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME
ClinVar Annotator: match by term: Verheij syndrome		 ClinVar PMID:18414213 PMID:25741868 PMID:27804958 NCBI chr 8:143,829,033...143,830,606 JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome
ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome		 OMIM
ClinVar		 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    syndrome 38797
      Verheij Syndrome 2
Path 2
Term Annotations click to browse term
  disease 147117
    Developmental Disease 49460
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42944
        Congenital Abnormalities 16633
          Musculoskeletal Abnormalities 6418
            Craniofacial Abnormalities 5330
              Verheij Syndrome 2
paths to the root