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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:Al-Raqad Syndrome
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Accession:DOID:9003530 term browser browse the term
Synonyms:exact_synonym: ARS
 primary_id: OMIM:616459


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Al-Raqad Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Al-Raqad syndrome		 OMIM
CTD
ClinVar		 PMID:19442771 PMID:19732863 PMID:21931168 PMID:23456818 PMID:25701870 More... NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Al-Raqad Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal dominant disease 6308
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group I 1379
                    microcephaly 1130
                      Al-Raqad Syndrome 1
paths to the root