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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:Beck-Fahrner Syndrome
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Accession:DOID:9006264 term browser browse the term
Definition:A developmental disorder characterized by global developmental delay with variably impaired intellectual development.
Synonyms:exact_synonym: BEFAHRS;   TET3 DEFICIENCY
 primary_id: OMIM:618798
For additional species annotation, visit the Alliance of Genome Resources.


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Beck-Fahrner Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30167849 PMID:31928709 NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      Beck-Fahrner Syndrome 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        central nervous system disease 12333
          brain disease 11575
            disease of mental health 8170
              Neurodevelopmental Disorders 6720
                Developmental Disabilities 757
                  Beck-Fahrner Syndrome 1
paths to the root