|
General Information
|
| Term |
Noonan syndrome 12 |
ID (Ontology) |
DOID:0112170 (Human Disease) |
| Definition |
A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. |
| Also Known As |
"NS12" |
| 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 |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | 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 |
|---|
| Alleles | Genes | Human Disease Models |
|---|
Noonan syndrome 12 | 1 | 2 | 1 | for disease ribbon | Noonan syndrome 12 | -- | 1 | -- | model of | Noonan syndrome 12 | 1 | 1 | -- |
|
Relationships