OBO ID: DOID:0060379
Term Name: acrofacial dysostosis Search Ontology:
Synonyms:
Definition: A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis
References:
Ontology: Human Disease   ( DOID:0060379 )
Relationships
is a type of:
has subtype:
OTHER acrofacial dysostosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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.