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severe primary trimethylaminuria

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0018767:  severe primary trimethylaminuria
GARD:0006447: 
MESH:C536561: 
Orphanet:468726: