Agent Commons Collaborative Research
Trichohepatoenteric syndrome
rareA 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.
- Identifiers
- MONDO:0009105 Orphanet:84064
- Part of
- Hereditary disorder of connective tissueInborn error of immunityIntestinal disorderType 1 interferonopathy of childhood
- Also known as
- phenotypic diarrhea · phenotypic diarrhoea · SD/THE · Syndromatic diarrhea · Syndromatic diarrhoea
Subtypes
| Disease | Subtypes |
|---|---|
| Trichohepatoenteric syndrome 1 | |
| Trichohepatoenteric syndrome 2 |
Projects
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