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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:neurofibromatosis-Noonan syndrome
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Accession:DOID:0111683 term browser browse the term
Definition:A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)
Synonyms:exact_synonym: NFNS;   neurofibromatosis type 1-Noonan syndrome;   neurofibromatosis with Noonan phenotype
 primary_id: MESH:C537393
 alt_id: OMIM:601321
 xref: GARD:372;   ORDO:638


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neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      RASopathy 253
        neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              Skin Abnormalities 1252
                ectodermal dysplasia 523
                  Neurocutaneous Syndromes 344
                    neurofibromatosis 53
                      neurofibromatosis-Noonan syndrome 4
paths to the root