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Al-Raqad 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:Al-Raqad Syndrome
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Accession:DOID:9003530 term browser browse the term
Synonyms:exact_synonym: ARS
 broad_synonym: DCPS-related condition
 xref: MIM:616459;   MONDO:0014648


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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 ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 9:35,035,710...35,087,283
Ensembl chr 9:35,035,704...35,087,357
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16237
    syndrome 10779
      Al-Raqad Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16237
    Developmental Disease 14027
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13046
        genetic disease 12735
          monogenic disease 10873
            autosomal genetic disease 10388
              autosomal dominant disease 6727
                complex cortical dysplasia with other brain malformations 1646
                  Malformations of Cortical Development, Group I 1403
                    microcephaly 1150
                      Al-Raqad Syndrome 1
paths to the root