|
General Information
|
| Term |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 |
ID (Ontology) |
DOID:0060989 (Human Disease) |
| Definition |
A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. |
| Also Known As |
"SSFSC1" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 | for disease ribbon | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 | model of | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 1 |
|
Relationships