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About: Noonan syndrome 13     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • Noonan syndrome 13
described by
id
  • DOID:0112161
database_cross_reference
  • OMIM:619087
has_exact_synonym
  • NS13
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 MAPK1 on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.
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is annotatedSource of
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