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Disease association ontology term - MONDO:0009105 - trichohepatoenteric syndrome

Term summary

ID
MONDO:0009105
Name
trichohepatoenteric syndrome
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0009105 - trichohepatoenteric syndrome

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Genes:

MONDO:0024541 - trichohepatoenteric syndrome 1

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Genes:

MONDO:0013818 - trichohepatoenteric syndrome 2

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