Search Ontology:
Human Disease
Treacher Collins syndrome 2
- Term ID
- DOID:0080790
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0080790 )
- is a type of
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