|
| General Information | |||
|---|---|---|---|
| Term | acrofrontofacionasal dysostosis | ID (Ontology) | DOID:0060226 (Human Disease) |
| 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. | ||
| Also Known As | "AFFN dysostosis" ; "Richieri-Costa-Colletto syndrome" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
bone development disease |__dysostosis |__acrofrontofacionasal dysostosis |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | dysostosis | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
MESH:C538186 MIM:201180 MIM:239710 ORDO:1784 SNOMEDCT_US_2023_03_01:720408003 UMLS_CUI:C1860118 |
|||