acrofrontofacionasal dysostosis
http://purl.obolibrary.org/obo/MONDO_0008715
A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. [ Orphanet:1784 ]
Term info
- Orphanet:1784 (OMIM:201180)
- UMLS:C1860118 (Orphanet:1784/e)
- GARD:0000484 (MONDO:equivalentTo)
- DOID:0060226 (MONDO:equivalentTo)
- SCTID:720408003 (MONDO:equivalentTo)
ordo_malformation_syndrome
A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
http://purl.obolibrary.org/obo/DOID_0060226, http://purl.obolibrary.org/obo/Orphanet_1784, http://linkedlifedata.com/resource/umls/id/C1860118, http://identifiers.org/snomedct/720408003
Richieri-Costa-Colletto syndrome, AFFN dysostosis
acrofrontofacionasal dysostosis type 1, Affn dysostosis 1, acrofrontofacionasal dysostosis 1
polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate, acro fronto facio nasal dysostosis, cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly, polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate, acrofrontofacionasal dysostosis syndrome
MONDO:0008715