Terminology Service for NFDI4Health
Saldino-Noonan syndrome
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http://purl.obolibrary.org/obo/DOID_0050549
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. [ http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Saldino-Noonan syndrome
Synonyms
- type I short rib polydactyly syndrome
has obo namespace
disease_ontology
id
DOID:0050549
Term relations
Subclass of:
- autosomal recessive disease
- syndrome
- has material basis in some autosomal recessive inheritance
- has_symptom some heart failure