trichohepatoenteric syndrome
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:0003778
inborn error of immunity
is_a
MONDO:0005020
intestinal disorder
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
SD/THE
exact
Syndromatic diarrhea
related
Syndromatic diarrhoea
related
THES1
related
Tricho-hepato-enteric syndrome
exact
Trichohepatoenteric syndrome
exact
Trichohepatoenteric syndrome type 1
exact
phenotypic diarrhea
exact
phenotypic diarrhoea
exact
syndromic diarrhea
exact
syndromic diarrhea/Tricho-hepato-enteric syndrome
exact
syndromic diarrhoea
exact
SPCC1919.05 SPCC550.03c