Details of Disease

General Information of Disease (ID: DISR34Y7)

Disease Name Thyroid dyshormonogenesis 6
Synonyms
thyroid hormonogenesis, genetic defect in, 6; TDH6; hypothyroidism, congenital, due to dyshormonogenesis, 6; thyroid dyshormonogenesis 6; DUOX2 familial thyroid dyshormonogenesis; thyroid dyshormonogenesis type 6; familial thyroid dyshormonogenesis caused by mutation in DUOX2
Definition Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.
Disease Hierarchy
DISWR94R: Inherited thyroid metabolism disease
DISALTXN: Familial thyroid dyshormonogenesis
DISR34Y7: Thyroid dyshormonogenesis 6
Disease Identifiers
MONDO ID
MONDO_0011792
MESH ID
C564608
UMLS CUI
C1846632
OMIM ID
607200
MedGen ID
375935

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DUOX2 OTU14HCN Definitive Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.