Details of Disease | DrugMAP

General Information of Disease (ID: DISDH8OZ)

Disease Name	Trichohepatoenteric syndrome 2
Synonyms	THES2; TRICHOHEPATOENTERIC syndrome 2; tricho-hepato-enteric syndrome caused by mutation in SKIV2L; Trichohepatoenteric syndrome 2; Trichohepatoenteric syndrome type 2; SKIV2L tricho-hepato-enteric syndrome
Definition	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.
Disease Hierarchy	DISL3ODF: Trichohepatoenteric syndrome DISDH8OZ: Trichohepatoenteric syndrome 2
Disease Identifiers	MONDO ID MONDO_0013818 UMLS CUI C3281289 OMIM ID 614602 MedGen ID 482919

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
SKIC2	OTTNLMVM	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.