|
General Information
|
| Term |
GAND syndrome |
ID (Ontology) |
DOID:0070048 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. |
| Also Known As |
"autosomal dominant intellectual developmental disorder 18" ; "autosomal dominant mental retardation 18" ; "autosomal dominant non-syndromic intellectual disability 18" (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
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
GAND syndrome | 1 | 1 | for disease ribbon | GAND syndrome | 1 | -- | model of | GAND syndrome | 1 | -- |
|
Relationships