Metadata | |
---|---|
ID | DOID:0050549 |
Name | Saldino-Noonan syndrome |
Definition | A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. https://en.wikipedia.org/wiki/Noonan_syndrome |
Synonyms |
type I short rib polydactyly syndrome [EXACT] |
Parent Relationships |
is_a syndrome |