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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C75459
http://purl.obolibrary.org/obo/NCIT_C75459
|
|---|---|
| Preferred Name | Noonan Syndrome 1 |
| Definitions |
Noonan syndrome caused by mutations in the PTPN11 gene.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Noonan syndrome caused by mutations in the PTPN11 gene. |
|---|---|
| label |
Noonan Syndrome 1
|
| prefLabel |
Noonan Syndrome 1
|
| Legacy Concept Name |
Noonan_Syndrome_1
|
| Preferred_Name |
Noonan Syndrome 1
|
| Related_To_Genetic_Biomarker | |
| prefixIRI |
NCIT:C75459
|
| subClassOf | |
| code |
C75459
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
| NCI_META_CUI |
CL448939
|
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