Search Ontology:
Human Disease

obsolete Saldino-Noonan syndrome

Term ID
DOID:0050549
Synonyms
Definition
A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. https://en.wikipedia.org/wiki/Noonan_syndrome
References
Obsolete
true
Secondary ID:
Merged into
asphyxiating thoracic dystrophy 3
Ontology
  ( DOID:0050549 )
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