acrofacial dysostosis Cincinnati type
Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
MONDO:0018237
acrofacial dysostosis
is_a
AFDCIN
related
POLR1A acrofacial dysostosis
exact
acrofacial dysostosis caused by mutation in POLR1A
exact
acrofacial dysostosis, Cincinnati type
related
SPBC4C3.05c