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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:TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
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Accession:DOID:9001881 term browser browse the term
Definition:This is is a multisystem disease with possible issues including cataract, developmental delay, liver dysfunction, microcytic anemia, and cerebellar hypoplasia.
Synonyms:exact_synonym: TKFCD
 primary_id: OMIM:618805
For additional species annotation, visit the Alliance of Genome Resources.



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TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkfc triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome ClinVar
OMIM
PMID:25741868 PMID:32004446 NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        Developmental Disabilities 626
          TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              Neurodevelopmental Disorders 6102
                Developmental Disabilities 626
                  TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME 1
paths to the root