OBO ID: DOID:0111683 |
Term Name: | neurofibromatosis-Noonan syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111683 ) |
OTHER neurofibromatosis-Noonan syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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