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loading...| Preferred Name |
functionally_abnormal |
| Synonyms |
function modified variant function_modified_variant functionally abnormal |
| Definitions |
A sequence variant in which the function of a gene product is altered with respect to a reference. Added after request from Lea Starita, lea.starita@gmail.com from the NCBI Feb 2019. |
| ID |
http://purl.obolibrary.org/obo/SO_0002218 |
| comment |
Added after request from Lea Starita, lea.starita@gmail.com from the NCBI Feb 2019. |
| created_by |
david |
| creation_date |
2019-03-01T10:21:26Z |
| definition |
A sequence variant in which the function of a gene product is altered with respect to a reference. |
| has_exact_synonym |
function modified variant |
| has_obo_namespace |
sequence |
| has_related_synonym |
function_modified_variant functionally abnormal |
| id |
SO:0002218 |
| label |
functionally_abnormal |
| notation |
SO:0002218 |
| prefLabel |
functionally_abnormal |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/SO_0002218 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/SO_0002218 | Human Disease Ontology / 人类疾病本体 | SAME_URI |