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/24939608, https://www.ncbi.nlm.nih.gov/pubmed/25124994 |
Xrefs | |
Alternateids |
DOID:0070108 |
Synonyms |
NS8 [EXACT] |
Parent Relationships |
is_a Noonan syndrome |