Trichohepatoenteric syndrome 2

Definition

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

Also known as SKIV2L tricho-hepato-enteric syndrome, tricho-hepato-enteric syndrome caused by mutation in SKIV2L, Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome type 2 — per MONDO

Also identified as

• DOID 0111416 per MONDO
• OMIM 614602 per MONDO
• UMLS C3281289 per MONDO