|
General Information
|
| Term |
autosomal recessive congenital ichthyosis 13 |
ID (Ontology) |
DOID:0080257 (Human Disease) |
| Definition |
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. |
| 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 |
|---|
autosomal recessive congenital ichthyosis 13 | 2 | for disease ribbon | autosomal recessive congenital ichthyosis 13 | 2 | model of | autosomal recessive congenital ichthyosis 13 | 2 |
|