OBO ID: DOID:0080790
Term Name: Treacher Collins syndrome 2 Search Ontology:
Synonyms:
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)
OTHER Treacher Collins syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR1D Treacher Collins syndrome 2 613717
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None