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Metadata
ID DOID:0111416
Name trichohepatoenteric syndrome 2
Definition A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33.
https://www.ncbi.nlm.nih.gov/pubmed/22444670
Xrefs

OMIM:614602

Synonyms

THES2 [EXACT]

Parent Relationships

is_a trichohepatoenteric syndrome

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