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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
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
For additional species annotation, visit the Alliance of Genome Resources.

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Saldino-Noonan syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO 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		 ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      asphyxiating thoracic dystrophy 42
        Saldino-Noonan syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                asphyxiating thoracic dystrophy 42
                  Saldino-Noonan syndrome 1
paths to the root