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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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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 PMID:10479479 PMID:10898113 PMID:11191884 PMID:11266081 PMID:12214664 PMID:12228178 PMID:12527699 PMID:12678693 PMID:12814961 PMID:12893987 PMID:12938085 PMID:15203093 PMID:15618671 PMID:16296944 PMID:16600650 PMID:16601883 PMID:17096187 PMID:17531949 PMID:18028028 PMID:18423897 PMID:19321370 PMID:19577495 PMID:20301282 PMID:21451776 PMID:22819296 PMID:23567996 PMID:23791655 PMID:25741868 PMID:28196478 PMID:28492532 PMID:28649550 PMID:28743400 NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        inherited metabolic disorder 2233
          trimethylaminuria 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                trimethylaminuria 1
paths to the root