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loading...| Preferred Name |
Noonan syndrome 1 |
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| 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 |
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| Definitions |
Noonan syndrome caused by mutations in the PTPN11 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008104 |
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| closeMatch | ||
| database_cross_reference |
GARD:0007223 OMIM:163950 DOID:0060578 NCIT:C75459 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C75459 |
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| has exact synonym |
Noonan syndrome type 1 Noonan syndrome 1 NS1 |
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| has related synonym |
Male Turner syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome Noonan syndrome pterygium colli syndrome |
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| id |
MONDO:0008104 |
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| imported from | ||
| label |
Noonan syndrome 1 |
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| notation |
MONDO:0008104 |
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| prefLabel |
Noonan syndrome 1 |
|
| textual definition |
Noonan syndrome caused by mutations in the PTPN11 gene. |
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| subClassOf |
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