General Information of Disease (ID: DISYPNF7)

Disease Name Hypothyroidism, congenital, nongoitrous, 8
Synonyms CHNG8; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
Disease Hierarchy
DIS66ON2: Hypothyroidism, congenital, nongoitrous
DISYPNF7: Hypothyroidism, congenital, nongoitrous, 8
Disease Identifiers
MONDO ID
MONDO_0026731
UMLS CUI
C5231395
OMIM ID
301033
MedGen ID
1684717

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
TBL1X TTAL6S1 Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBL1X OTXQ51E0 Limited Unknown [1]
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References

1 Mutations in TBL1X Are Associated With Central Hypothyroidism. J Clin Endocrinol Metab. 2016 Dec;101(12):4564-4573. doi: 10.1210/jc.2016-2531. Epub 2016 Sep 7.