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Thyroid dyshormonogenesis 1

MONDO:0020716

Also known as: TDH1, familial thyroid dyshormonogenesis 1, hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect, thyroid dyshormonogenesis type 1, thyroid hormonogenesis, genetic defect in, 1

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Thyroid gland disorder (89) Endocrine system disorder (72) Inborn errors of metabolism (45) Hypothyroidism (42) Human disease (14) Congenital hypothyroidism (10) Disease of genetic or genomic mechanism (2)

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