OBO ID: DOID:0060353
Term Name: acrofacial dysostosis Cincinnati type Search Ontology:
Synonyms:
Definition: An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. https://www.ncbi.nlm.nih.gov/pubmed/25913037
References:
Ontology: Human Disease   ( DOID:0060353 )
Relationships
is a type of:
OTHER acrofacial dysostosis Cincinnati type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLR1A Acrofacial dysostosis, Cincinnati type 616462
ZEBRAFISH MODELS
Fish Conditions Citations
polr1ahi3639Tg/hi3639Tg control Watt et al., 2018
PHENOTYPE No data available

CITATIONS (2)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.