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Disease Ontology Browser
postaxial acrofacial dysostosis (DOID:0111259)
Alliance: disease page
Synonyms: acrofacial dysostosis, Genee-Wiedmann type; mandibulfacial dysostosis with postaxial limb anomalies; Miller syndrome; POADS; Postaxial acrodysostosis
Alt IDs: OMIM:263750, ORDO:246, UMLS_CUI:C0265257
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory