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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Noonan syndrome 1 | |
| Synonyms |
Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome Noonan syndrome type 1 Noonan syndrome 1 NS1 |
|
| Definitions |
Noonan syndrome caused by mutations in the PTPN11 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008104 |
|
| altLabel |
Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome Noonan syndrome type 1 Noonan syndrome 1 NS1
|
|
| definition |
Noonan syndrome caused by mutations in the PTPN11 gene.
|
|
| has_exact_synonym |
Noonan syndrome type 1 Noonan syndrome 1 NS1
|
|
| has_related_synonym |
Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome
|
|
| IAO_0000233 | ||
| label |
Noonan syndrome 1
|
|
| prefixIRI |
MONDO:0008104
|
|
| prefLabel |
Noonan syndrome 1
|
|
| textual definition |
Noonan syndrome caused by mutations in the PTPN11 gene.
|
|
| subClassOf |
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