FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Noonan syndrome 13 ID (Ontology) DOID:0112161 (Human Disease)
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.
Also Known As "NS13"
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 Genes
 Noonan syndrome 13       1
 for disease ribbon | Noonan syndrome 13       1
 model of | Noonan syndrome 13       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__Noonan syndrome_____________
autosomal genetic disease       |
 |__autosomal dominant disease__|
RASopathy                       |
 |__Noonan syndrome_____________|
                                Noonan syndrome 13  1 rec.
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Is a autosomal dominant disease
Noonan syndrome
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Synonyms
  • "NS13" EXACT OMO:0003012
Secondary IDs
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MIM:619087