Details of Disease

General Information of Disease (ID: DISHSJJN)

Disease Name Peripheral resistance to thyroid hormones
Definition Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.
Disease Hierarchy
DISQNKB3: Peripheral hypothyroidism
DISHSJJN: Peripheral resistance to thyroid hormones
Disease Identifiers
MONDO ID
MONDO_0019995
UMLS CUI
C4273673
MedGen ID
902322
SNOMED CT ID
718193005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
THRB TTGER3L Strong Biomarker [1]
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References

1 Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.Eur Thyroid J. 2014 Mar;3(1):7-9. doi: 10.1159/000358180. Epub 2014 Mar 4.