loading...| Preferred Name | Noonan syndrome | |
| Synonyms |
Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome |
|
| Definitions |
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018997 |
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| altLabel |
Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome |
|
| definition |
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. |
|
| has_exact_synonym |
Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome |
|
| has_related_synonym |
Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome |
|
| label |
Noonan syndrome |
|
| prefixIRI |
MONDO:0018997 |
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| prefLabel |
Noonan syndrome |
|
| textual definition |
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020167 http://purl.obolibrary.org/obo/MONDO_0020297 http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0020158 |