RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
SRPS type 1; SRPS1; polydactyly with neonatal chondrodystrophy, type 1; polydactyly with neonatal chondrodystrophy, type I; short rib polydactyly syndrome type 1; short rib polydactyly syndrome type I; short rib polydactyly syndrome, Saldino Noonan type
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I ClinVar Annotator: match by term: Saldino-Noonan Syndrome ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type