Search Ontology:
Human Disease
acrofrontofacionasal dysostosis
- Term ID
- DOID:0060226
- Synonyms
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- AFFN dysostosis
- Richieri-Costa-Colletto syndrome
- 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. (2)
- References
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- MESH:C538186
- MIM:201180
- MIM:239710
- ORDO:1784
- SNOMEDCT_US_2023_03_01:720408003
- UMLS_CUI:C1860118
- Ontology
- Human Disease ( DOID:0060226 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models