/trichohepatoenteric syndrome 2

trichohepatoenteric syndrome 2

Rare Disease

MONDO:0013818

Also Known As

SKIV2L tricho-hepato-enteric syndromeTrichohepatoenteric syndrome 2Trichohepatoenteric syndrome type 2tricho-hepato-enteric syndrome caused by mutation in SKIV2LTHES2TRICHOHEPATOENTERIC syndrome 2

Definition

Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.

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Associated Genes

SKIC2 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614602 ↗

GARD

GARD:15819 ↗

Related Diseases

trichohepatoenteric syndrome 1

MONDO:0024541

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