ONTOLOGY REPORT - ANNOTATIONS


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, has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. (DO)
Synonyms:exact_synonym: SRPS type 1;   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
 primary_id: RDO:9004136
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Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      asphyxiating thoracic dystrophy 44
        Saldino-Noonan syndrome 3
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              osteochondrodysplasia 406
                asphyxiating thoracic dystrophy 44
                  Saldino-Noonan syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.