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Summary Literature (0)
DOID:0060383 - acrofacial dysostosis Rodriguez type

Disease Ontology Definition:An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.

Synonyms: acrofacial dysostosis, syndrome of Rodriguez

Xenbase Genes : sf3b4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008714 - acrofacial dysostosis Rodriguez type


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): acrofacial dysostosis (is_a)