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Noonan syndrome 7
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.
Uniprot Description A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
Disease Ontology Description A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060585
OMIM:613706
UMLS:C3150970
MONDO:0013379
High level summary of knowledge for a disease, including descriptions and datasource references.