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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111415
OMIM:222470
UMLS:CN034858
MONDO:0024541
High level summary of knowledge for a disease, including descriptions and datasource references.