Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |