Details of Disease | DrugMAP

General Information of Disease (ID: DISIR0ZL)

Disease Name	Inflammatory bowel disease, immunodeficiency, and encephalopathy
Synonyms	IBDIMDE; INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Disease Hierarchy	DISYKSRF: Genetic disease DISIR0ZL: Inflammatory bowel disease, immunodeficiency, and encephalopathy
Disease Identifiers	MONDO ID MONDO_0032601 UMLS CUI C4748708 OMIM ID 618213 MedGen ID 1648434 Orphanet ID 565788

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
TGFB1	TTR9XHZ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGFB1	OTV5XHVH	Strong	Autosomal recessive	[1]
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References

1	Human TGF-1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26.