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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 chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome		 OMIM
CTD
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,951,576...117,012,760
Ensembl chr 2:116,951,855...117,012,760 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    syndrome 10388
      RASopathy 257
        neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        Neurologic Manifestations 9802
          sensory system disease 6768
            skin disease 3834
              Skin Abnormalities 1303
                ectodermal dysplasia 546
                  Neurocutaneous Syndromes 362
                    neurofibromatosis 55
                      neurofibromatosis-Noonan syndrome 4
paths to the root