Terminology Service for NFDI4Health
acrofacial dysostosis
Go to external page
http://purl.obolibrary.org/obo/DOID_0060379
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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Label
acrofacial dysostosis
created by
elvira
creation date
2015-09-21T15:24:28Z
has obo namespace
disease_ontology
id
DOID:0060379