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