| Metadata | |
|---|---|
| ID | DOID:0060586 |
| Name | Noonan syndrome 8 |
| Definition | A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/25124994, https://www.ncbi.nlm.nih.gov/pubmed/24939608 |
| Xrefs | |
| Alternateids |
DOID:0070108 |
| Synonyms |
NS8 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |