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Summary Literature (0)
DOID:0111259 - postaxial acrofacial dysostosis


Disease Ontology Definition:A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.

Synonyms: acrofacial dysostosis, Genee-Wiedmann type, mandibulfacial dysostosis with postaxial limb anomalies, Miller syndrome, POADS, Postaxial acrodysostosis

Xenbase Genes : dhodh



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)