Metadata | |
---|---|
ID | DOID:0060582 |
Name | Noonan syndrome 4 |
Definition | A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. https://www.ncbi.nlm.nih.gov/pubmed/19438935 |
Xrefs | |
Alternateids |
DOID:0070104 |
Synonyms |
NS4 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |