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Metadata
ID DOID:0080791
Name Treacher Collins syndrome 3
Definition A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
https://pubmed.ncbi.nlm.nih.gov/11013442/
Xrefs

OMIM:248390

Parent Relationships

is_a Treacher Collins syndrome

is_a autosomal recessive disease

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