|
General Information
|
| Term |
congenital symmetric circumferential skin creases 1 |
ID (Ontology) |
DOID:0112242 (Human Disease) |
| Definition |
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. |
| Also Known As |
"CSCSC1" |
| 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 |
|---|
congenital symmetric circumferential skin creases 1 | 3 | for disease ribbon | congenital symmetric circumferential skin creases 1 | 3 | model of | congenital symmetric circumferential skin creases 1 | 3 |
|
Relationships