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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.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Nutritional and Metabolic Diseases 8322
      disease of metabolism 8322
        inherited metabolic disorder 6273
          trimethylaminuria 1
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          monogenic disease 10257
            autosomal genetic disease 9392
              autosomal recessive disease 6473
                trimethylaminuria 1
paths to the root