Details of Disease | DrugMAP

General Information of Disease (ID: DISYAJH6)

Disease Name	Hypothyroidism, congenital, nongoitrous, 9
Synonyms	CHNG9; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; hypothyroidism, congenital, nongoitrous, 9, X-linked recessive
Disease Hierarchy	DIS66ON2: Hypothyroidism, congenital, nongoitrous DISYAJH6: Hypothyroidism, congenital, nongoitrous, 9
Disease Identifiers	MONDO ID MONDO_0026732 UMLS CUI C5231396 OMIM ID 301035 MedGen ID 1684807

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
IRS4	OTTOL40K	Strong	X-linked	[1]
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References

1	Mutations in IRS4 are associated with central hypothyroidism. J Med Genet. 2018 Oct;55(10):693-700. doi: 10.1136/jmedgenet-2017-105113. Epub 2018 Jul 30.