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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:Noonan syndrome 4
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Accession:DOID:0060582 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: NS4
 primary_id: MESH:C548082
 alt_id: OMIM:610733;   RDO:0004663
For additional species annotation, visit the Alliance of Genome Resources.


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Noonan syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by OMIM:610733
ClinVar Annotator: match by term: Noonan syndrome 4
OMIM
ClinVar
PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:18651097, PMID:18678287, PMID:18854871, PMID:18925667, PMID:18972187, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20305546, PMID:20461756, PMID:20493809, PMID:20683980, PMID:20981092, PMID:21274610, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21744363, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22551697, PMID:22585553, PMID:22589294, PMID:22604720, PMID:23165751, PMID:23487764, PMID:23665959, PMID:23756559, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24522193, PMID:24896146, PMID:25073238, PMID:25180280, PMID:25337068, PMID:25712082, PMID:25741868, PMID:25802880, PMID:25862627, PMID:25864170, PMID:26214590, PMID:26249544, PMID:26297936, PMID:26467025, PMID:26580448, PMID:26686981, PMID:26708403, PMID:26918529, PMID:27153395, PMID:27236105, PMID:27304678, PMID:27763634, PMID:28378436, PMID:28492532, PMID:28870985, PMID:28884940, PMID:29037749, PMID:29625050, PMID:29696744, PMID:29752777, PMID:29868112, PMID:30266093, PMID:30784236, PMID:17586837, PMID:17143285, PMID:17143282 RGD:11063178, RGD:11063543, RGD:11063026 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      RASopathy 75
        Noonan syndrome 52
          Noonan syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Noonan syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.