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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 9
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Accession:DOID:0060587 term browser browse the term
Definition:An autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects. (OMIM)
Synonyms:exact_synonym: NS9
 primary_id: OMIM:616559
 alt_id: RDO:9001213
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Noonan syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arf6 ADP-ribosylation factor 6 JBrowse link 6 91,697,109 91,698,257 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Klhdc1 kelch domain containing 1 JBrowse link 6 91,532,380 91,584,112 RGD:8554872
G Klhdc2 kelch domain containing 2 JBrowse link 6 91,595,443 91,630,479 RGD:8554872
G Nemf nuclear export mediator factor JBrowse link 6 91,611,021 91,676,394 RGD:8554872
G Pole2 DNA polymerase epsilon 2, accessory subunit JBrowse link 6 91,494,348 91,532,355 RGD:8554872
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:7240710
RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Noonan syndrome 51
        Noonan syndrome 9 8
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Noonan syndrome 9 8
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.