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EpilepsyOntology
Last uploaded:
November 8, 2021
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| Preferred Name | Gene Abnormality | |
| Synonyms |
Gene Abnormality Genetic Mutation |
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| Definitions |
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C36327 |
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| code |
C36327
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| fromEpSO | ||
| fromILAE |
true
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| has exact synonym |
Gene Abnormality Genetic Mutation
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| hasDefinition |
Current knowledge regarding the contribution of gene abnormalities to epilepsy derives from specific molecular genetic studies that have been well replicated and even become the basis of diagnostic testing, or from appropriately designed family studies.
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| imported from | ||
| label |
Gene Abnormality
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|
| Legacy_Concept_Name |
Gene_Abnormality
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| Preferred_Name |
Gene Abnormality
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|
| prefixIRI |
NCIT:C36327
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| prefLabel |
Gene Abnormality
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| see also | ||
| Semantic_Type |
Cell or Molecular Dysfunction
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| UMLS_CUI |
C1517478
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| 文本定义 |
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.
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|
| subClassOf |
https://bio.scai.fraunhofer.de/ontology/epilepsy#genetic_etiology |
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Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C36327 | BERO | SAME_URI |
| http://purl.obolibrary.org/obo/NCIT_C36327 | MELO | SAME_URI |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36327 | NCIT | LOOM |
| http://purl.obolibrary.org/obo/NCIT_C36327 | BERO | LOOM |
| http://purl.obolibrary.org/obo/NCIT_C36327 | MELO | LOOM |