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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 Like Syndrome
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Accession:DOID:9003091 term browser browse the term
Synonyms:exact_synonym: Noonan syndrome with pigmented villonodular synovitis;   Noonan-like syndrome disorder;   Noonan-like-multiple giant cell lesion syndrome;   Noonan-related syndrome
 primary_id: MESH:C537846
For additional species annotation, visit the Alliance of Genome Resources.


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Noonan Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:27069254 PMID:28492532 PMID:29296819 NCBI chr 8:44,487,824...44,571,620 JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:149,555,069...149,593,239 JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr 8:44,479,391...44,487,575 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr12:35,365,436...35,424,925 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:16267129 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18651097 PMID:18854871 PMID:18925667 PMID:19020799 PMID:19352411 PMID:20186801 PMID:20305546 PMID:20493809 PMID:21340158 PMID:21387466 PMID:21784453 PMID:22190897 PMID:22465605 PMID:22488759 PMID:22494877 PMID:22585553 PMID:23487764 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24458522 PMID:25741868 PMID:25862627 PMID:25864170 PMID:26297936 PMID:27304678 PMID:28378436 PMID:28492532 PMID:29493581 PMID:29625050 PMID:29696744 PMID:30784236 NCBI chr 6:14,533,870...14,613,348 JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26519477 PMID:27466182 PMID:28492532 PMID:30348783 NCBI chr 1:252,958,939...253,048,820 JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 OMIM
ClinVar
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22995099 PMID:23756559 PMID:23786871 PMID:23885229 PMID:23918763 PMID:24033266 PMID:24458587 PMID:24458596 PMID:25123707 PMID:25137548 PMID:25326635 PMID:25326637 PMID:25331583 PMID:25563136 PMID:25741868 PMID:26519477 PMID:27466182 PMID:28074886 PMID:28301460 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr 1:252,958,939...253,048,820 JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 ClinVar
OMIM
PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 PMID:28211982 PMID:28492532 PMID:31474318 NCBI chr 6:23,958,813...23,992,841 JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar Annotator: match by OMIM:613563
OMIM
ClinVar
PMID:17446348 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20595524 PMID:20619386 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22246246 PMID:22733026 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24458550 PMID:24728327 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:27069254 PMID:28414188 PMID:28492532 PMID:28589114 PMID:29296819 PMID:31101757 NCBI chr 8:44,487,824...44,571,620 JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar NCBI chr 8:44,479,391...44,487,575 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:30311386 NCBI chr12:35,365,436...35,424,925 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Stomatognathic Diseases 1004
      Jaw Diseases 304
        Giant Cell Granuloma 7
          Noonan Like Syndrome 7
            Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 3
            Noonan syndrome-like disorder with loose anagen hair + 2
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        sensory system disease 5603
          mouth disease 776
            tooth disease 297
              periodontal disease 116
                gingival disease 24
                  Giant Cell Granuloma 7
                    Noonan Like Syndrome 7
                      Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 3
                      Noonan syndrome-like disorder with loose anagen hair + 2
paths to the root