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bn:00057983n
Noun Concept
Categories: Autosomal dominant disorders, Diseases named for discoverer, Syndromes affecting stature, Syndromes affecting the heart, Enzyme defects
EN
Noonan's syndrome  Noonan syndrome  Turner's phenotype, karyotype normal  Female pseudo-Turner syndrome  Mental retardation short stature heart and skeletal anomalies
EN
Syndrome seen only in males; marked by short stature and lowset ears and subnormal fertility WordNet 3.0
Definitions
Relations
Sources
EN
Syndrome seen only in males; marked by short stature and lowset ears and subnormal fertility WordNet 3.0 & Open English WordNet
Noonan syndrome is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Wikipedia
Human disease Wikidata
A relatively common autosomal-dominant congenital disorder, a form of dwarfism accompanied by heart defect, learning difficulties, and a characteristic facial appearance. Wiktionary
IS A
syndrome
rare disease
GENETIC ASSOCIATION
PTPN11
A2ML1
HEALTH SPECIALTY
medical genetics
NAMED AFTER
Jacqueline Noonan
WordNet 3.0 & Open English WordNet
EN
Noonan's syndrome
Wikipedia
EN
Noonan syndrome
Wikidata
EN
Noonan syndrome
Wiktionary
EN
Noonan syndrome
Wikipedia Redirections
EN
Female pseudo-Turner syndrome, Mental retardation short stature heart and skeletal anomalies, Noonan's Syndrome, Noonan Syndrome, Pseudo-Turner syndrome, Short limbs abnormal face congenital heart disease, Short stature heart defect craniofacial anomalies
Wikidata Alias
EN
Turner's phenotype, karyotype normal

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