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Metadata
ID DOID:0080789
Name Treacher Collins syndrome 1
Definition A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.
https://pubmed.ncbi.nlm.nih.gov/15340364/
Xrefs

OMIM:154500

Parent Relationships

is_a Treacher Collins syndrome

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