About   Help   FAQ
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, MESH:C537680, 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory