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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:trimethylaminuria
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Accession:DOID:0080361 term browser browse the term
Definition:An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. (DO)
Synonyms:exact_synonym: TMAU;   TMAuria;   fish malodor syndrome;   fish odor syndrome;   stale fish syndrome
 primary_id: MESH:C536561
 alt_id: OMIM:602079
 xref: GARD:6447;   ORDO:468726
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
trimethylaminuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmo3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by OMIM:602079
ClinVar Annotator: match by term: Trimethylaminuria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:987532 PMID:9282831 PMID:9398858 PMID:9536088 PMID:10338091 More... NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        inherited metabolic disorder 2661
          trimethylaminuria 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal recessive disease 3544
                trimethylaminuria 1
paths to the root