FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Treacher Collins syndrome 2 ID (Ontology) DOID:0080790 (Human Disease)
Definition A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 Treacher Collins syndrome 2       2      1
 for disease ribbon | Treacher Collins syndrome 2       --       1
 model of | Treacher Collins syndrome 2       2      1
Spanning Tree (Parents/Children)
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autosomal dominant disease
 |__Treacher Collins syndrome____
autosomal genetic disease        |
 |__autosomal recessive disease__|
syndrome                         |
 |__Treacher Collins syndrome____|
                                 Treacher Collins syndrome 2  3 rec.
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Is a autosomal recessive disease
Treacher Collins syndrome
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MIM:613717