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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:JABERI-ELAHI SYNDROME
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Accession:DOID:9005019 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. (OMIM)
Synonyms:exact_synonym: JABELS
 primary_id: OMIM:617988
For additional species annotation, visit the Alliance of Genome Resources.


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JABERI-ELAHI SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp2 GTP binding protein 2 ISO ClinVar Annotator: match by term: JABERI-ELAHI SYNDROME ClinVar
OMIM
PMID:25741868 PMID:29449720 PMID:32860008 NCBI chr 9:17,198,957...17,208,456
Ensembl chr 9:17,198,957...17,209,220
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Jaberi-Elahi syndrome ClinVar PMID:25741868 PMID:29449720 PMID:32860008 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        JABERI-ELAHI SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                JABERI-ELAHI SYNDROME 2
paths to the root