Term Name: | trichohepatoenteric syndrome 1 |
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Synonyms: | THES1 |
Definition: | A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. |
Ontology: | Human Disease [DOID:0111415] ( DOID:0111415 ) |