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Metadata
ID DOID:0080790
Name Treacher Collins syndrome 2
Definition A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
https://pubmed.ncbi.nlm.nih.gov/25790162/
Xrefs

OMIM:613717

Parent Relationships

is_a Treacher Collins syndrome

is_a autosomal recessive disease

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