Terminology Service for NFDI4Health
SDH Complex Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C48301
A change in the nucleotide sequence of any gene that encodes one of the proteins in the succinate dehydrogenase (SDH) complex. [ ]
Term info
Label
SDH Complex Gene Mutation
Synonyms
- Mitochondrial Complex II Gene Mutation
- Mitochondrial Respiratory Chain Complex II Gene Mutation
- SDH Complex Gene Mutation
- SDH Family Gene Mutation
- SDH Gene Mutation
- SDHA/B/C/D Mutation
- Succinate Dehydrogenase Gene Mutation
- Succinate-CoQ Reductase Gene Mutation
- Succinate-Coenzyme Q Reductase Gene Mutation
Subsets
NCIT_C118168, NCIT_C159414, NCIT_C156953, NCIT_C156952, NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP, CPTAC
Display Name
SDH Complex Gene Mutation
Legacy Concept Name
Mitochondrial_Complex_II_Gene_Mutation
Preferred Name
SDH Complex Gene Mutation
Related To Genetic Biomarker
http://purl.obolibrary.org/obo/NCIT_C97776, http://purl.obolibrary.org/obo/NCIT_C97779, http://purl.obolibrary.org/obo/NCIT_C97773, http://purl.obolibrary.org/obo/NCIT_C103873
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C1709046
code
C48301