OBO ID: DOID:0112161 |
Term Name: | Noonan syndrome 13 | Search Ontology: | |
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Definition: | A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. https://pubmed.ncbi.nlm.nih.gov/32721402/ | ||
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Ontology: | Human Disease ( DOID:0112161 ) |
OTHER Noonan syndrome 13 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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