You are using an outdated browser. Please upgrade your browser to improve your experience.

trichohepatoenteric syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.
Uniprot Description A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients.
Mondo Term and Equivalent IDs
MONDO:0024541:  trichohepatoenteric syndrome 1
DOID:0111415: 
UMLS:CN034858: