|
| General Information | |||
|---|---|---|---|
| Term | Sakati-Nyhan syndrome | ID (Ontology) | DOID:0060359 (Human Disease) |
| Definition | An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. | ||
| Also Known As | "ACPS with leg hypoplasia" ; "acrocephalopolysyndactyly type 3" ; "acrocephalopolysyndactyly Type III" (for all, see Synonyms field below) | ||
| 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
|
|||
|
||||||
synostosis |__acrocephalosyndactylia |__Sakati-Nyhan syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | acrocephalosyndactylia | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:115 ICD10CM:Q87.0 MESH:C537227 MIM:101120 ORDO:3128 |
|||