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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;   TET3-RELATED CONDITION
 primary_id: OMIM:618798


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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: TET3-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30167849 PMID:31928709 NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Beck-Fahrner Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              Neurodevelopmental Disorders 6794
                Developmental Disabilities 773
                  Beck-Fahrner Syndrome 1
paths to the root