OBO ID: DOID:0080792
Term Name: Treacher Collins syndrome 4 Search Ontology:
Synonyms:
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. https://pubmed.ncbi.nlm.nih.gov/31649276/
References:
Ontology: Human Disease   ( DOID:0080792 )
Relationships
is a type of:
OTHER Treacher Collins syndrome 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR1B Treacher-Collins syndrome 4 618939
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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