Metadata | |
---|---|
ID | DOID:0060578 |
Name | Noonan syndrome 1 |
Definition | A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/18203203 |
Xrefs | |
Alternateids |
DOID:0070101 |
Synonyms |
NS1 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |