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Human Disease

dystransthyretinemic hyperthyroxinemia

Term ID
DOID:0080219
Synonyms
Definition
A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/1979335/
References
Ontology
Human Disease   ( DOID:0080219 )
Relationships
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Genes Involved
Zebrafish Models