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