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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Gene Abnormality | |
| Synonyms |
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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 |
|
| code |
C36327
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|
| definition |
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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| 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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| Semantic_Type |
Cell or Molecular Dysfunction
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| UMLS_CUI |
C1517478
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| subClassOf |
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Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C36327 | EPIO | 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 | EPIO | LOOM |
| http://purl.obolibrary.org/obo/NCIT_C36327 | MELO | LOOM |