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 |