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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 inability 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: MIM:602079
 xref: GARD:6447;   ORDO:468726


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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 term: Trimethylaminuria
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:987532 PMID:8401051 PMID:9282831 PMID:9398858 PMID:9536088 More... NCBI chr13:77,838,899...77,868,869
Ensembl chr13:77,842,602...77,861,256 		JBrowse link
G Fmo4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: Trimethylaminuria ClinVar PMID:25741868 NCBI chr13:77,687,909...77,706,100
Ensembl chr13:77,687,909...77,706,100 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          trimethylaminuria 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                trimethylaminuria 2
paths to the root