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Disease Ontology Browser
acrofrontofacionasal dysostosis (DOID:0060226)
Alliance: disease page
Synonyms: AFFN dysostosis; Richieri-Costa-Colletto syndrome
Alt IDs: OMIM:201180, OMIM:239710, MESH:C538186, ORDO:1784, UMLS_CUI:C1860118
Definition: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory