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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
ClinVar Annotator: match by term: Beck-Fahrner syndrome
OMIM
ClinVar
PMID:25741868 PMID:30167849 PMID:31928709 NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Beck-Fahrner Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        central nervous system disease 10376
          brain disease 9740
            disease of mental health 7041
              Neurodevelopmental Disorders 5690
                Developmental Disabilities 560
                  Beck-Fahrner Syndrome 1
paths to the root