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Summary Literature (0)
DOID:0080219 - dystransthyretinemic hyperthyroxinemia

Disease Ontology 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.

Synonyms:

Xenbase Genes : ttr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007785 - hyperthyroxinemia, dystransthyretinemic

MIM:
MIM:145680 - HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), hyperthyroxinemia (is_a)