Details of Disease | DrugMAP

General Information of Disease (ID: DISJO8W4)

Disease Name	Pseudo-TORCH syndrome 3
Synonyms	PSEUDO-TORCH SYNDROME 3; PTORCH3; pseudo-torch syndrome 3
Disease Hierarchy	DISM9N8Y: Pseudo-TORCH syndrome DISJO8W4: Pseudo-TORCH syndrome 3
Disease Identifiers	MONDO ID MONDO_0030044 UMLS CUI C5394391 OMIM ID 618886 MedGen ID 1708513

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
STAT2	OTO9G2RZ	Strong	Autosomal recessive	[1]
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References

1	Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501.