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ZIRC
OBO ID: DOID:0050549
Term Name: Saldino-Noonan syndrome Search Ontology:
Synonyms:
  • type I short rib polydactyly syndrome
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:
Ontology: Human Disease   (DOID:0050549)
OTHER Saldino-Noonan syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None