Thyroid dyshormonogenesis 5

MONDO:0010137

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.

Also known as: DUOXA2 familial thyroid dyshormonogenesis, TDH5, familial thyroid dyshormonogenesis caused by mutation in DUOXA2, hypothyroidism, congenital, due to dyshormonogenesis, 5, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis type 5, thyroid hormonogenesis, genetic defect in, 5

2 clinical trials for this condition and its sub-types, 1 tagged with Thyroid dyshormonogenesis 5 itself.

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Where it sits in the disease tree

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Part of

↑ Familial thyroid dyshormonogenesis (4)

Including sub-types (2) Tagged with Thyroid dyshormonogenesis 5 (1)

Trials to join now! 1 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Thyroid dyshormonogenesis 5

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth