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trichohepatoenteric syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Mondo Term and Equivalent IDs
MONDO:0009105:  trichohepatoenteric syndrome
DOID:0111414: 
GARD:0005258: 
OMIMPS:222470: 
Orphanet:84064: 
SCTID:703406006: 
UMLS:C1857276: