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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


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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 OMIM
ClinVar		 PMID:25741868 PMID:29449720 PMID:30790272 PMID:32860008 NCBI chr 9:14,813,964...14,823,419
Ensembl chr 9:14,813,964...14,823,241 		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:30790272 PMID:32860008 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        JABERI-ELAHI SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                JABERI-ELAHI SYNDROME 2
paths to the root