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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:Saldino-Noonan syndrome
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Accession:DOID:0050549 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
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. (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
 xref: GARD:4834;   ORDO:93270
 replaced_by: DOID:0110087


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