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General Information
ZIRC
OBO ID: DOID:0080538
Term Name: Sweeney-Cox syndrome Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/28369379
References:
Ontology: Human Disease   (DOID:0080538)
OTHER Sweeney-Cox syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TWIST1 Sweeney-Cox syndrome 617746
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None