Search Ontology:
Human Disease

acrofacial dysostosis

Term ID
DOID:0060379
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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