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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome with multiple lentigines
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Accession:DOID:14291 term browser browse the term
Definition:A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)
Synonyms:exact_synonym: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome;   Cardiocutaneous syndrome;   Cardiomyopathic Lentiginoses;   Cardiomyopathic Lentiginosis;   Gorlin syndrome II;   LEOPARD Syndromes;   LEOPARD syndrome;   Lentiginosis Cardiomyopathics;   Lentiginosis profusa syndrome;   Moynahan syndrome;   Multiple Lentigines Syndrome;   Multiple Lentigines Syndromes;   cardio cutaneous syndrome;   cardio-cutaneous syndromes;   generalized lentiginosis;   progressive cardiomyopathic lentiginoses;   progressive cardiomyopathic lentiginosis
 primary_id: MESH:D044542
 xref: GARD:1100;   NCI:C84820;   OMIM:PS151100
For additional species annotation, visit the Alliance of Genome Resources.


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Noonan syndrome with multiple lentigines term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:1601571
RGD:8554872
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:11554173
Noonan syndrome with multiple lentigines 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
Noonan syndrome with multiple lentigines 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkrn2 makorin, ring finger protein, 2 JBrowse link 4 147,514,041 147,532,086 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872
Noonan syndrome with multiple lentigines 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Noonan syndrome with multiple lentigines 9
        Noonan syndrome with multiple lentigines 1 2
        Noonan syndrome with multiple lentigines 2 2
        Noonan syndrome with multiple lentigines 3 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          skin disease 2650
            pigmentation disease 215
              Hyperpigmentation 46
                Melanosis 37
                  Lentigo 28
                    Noonan syndrome with multiple lentigines 9
                      Noonan syndrome with multiple lentigines 1 2
                      Noonan syndrome with multiple lentigines 2 2
                      Noonan syndrome with multiple lentigines 3 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.