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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-Like Disorder with or without Juvenile Myelomonocytic Leukemia
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Accession:DOID:9002854 term browser browse the term
Synonyms:exact_synonym: CBL SYNDROME;   CBL mutation-associated syndrome;   NSLL
 narrow_synonym: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
 primary_id: OMIM:613563


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CBL SYNDROME | 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		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		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 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Stomatognathic Diseases 1348
      Jaw Diseases 378
        Giant Cell Granuloma 7
          Noonan Like Syndrome 7
            Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 2
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            mouth disease 1019
              tooth disease 447
                periodontal disease 136
                  gingival disease 24
                    Giant Cell Granuloma 7
                      Noonan Like Syndrome 7
                        Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia 2
paths to the root