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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 syndrome 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype
ClinVar Annotator: match by OMIM:601321
OMIM
ClinVar
PMID:190611 PMID:1568246 PMID:1568247 PMID:7586657 PMID:7904209 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      congenital heart disease 1080
        Noonan syndrome 55
          neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      Neoplasms by Site 6676
        Nervous System Neoplasms 1687
          nervous system cancer 1060
            peripheral nervous system neoplasm 151
              Nerve Sheath Neoplasms 75
                peripheral nerve sheath neoplasm 42
                  neurofibroma 41
                    neurofibromatosis 34
                      neurofibromatosis-Noonan syndrome 4
paths to the root