| Metadata | |
|---|---|
| ID | DOID:0112169 |
| Name | Noonan syndrome 11 |
| Definition | A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. https://pubmed.ncbi.nlm.nih.gov/28289718/ |
| Xrefs | |
| Synonyms |
NS11 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |