FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Treacher Collins syndrome 4 ID (Ontology) DOID:0080792 (Human Disease)
Definition A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.
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 Genes
 Treacher Collins syndrome 4       1
 for disease ribbon | Treacher Collins syndrome 4       1
 model of | Treacher Collins syndrome 4       1
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autosomal dominant disease__
syndrome____________________|
                            Treacher Collins syndrome
                             |__Treacher Collins syndrome 4  1 rec.
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MIM:618939