SDH Complex Gene Mutation

Preferred Label : SDH Complex Gene Mutation;

NCIt synonyms : Mitochondrial Respiratory Chain Complex II Gene Mutation; Succinate-Coenzyme Q Reductase Gene Mutation; Succinate-CoQ Reductase Gene Mutation; SDH Family Gene Mutation; SDH Gene Mutation; Succinate Dehydrogenase Gene Mutation; Mitochondrial Complex II Gene Mutation;

NCIt related terms : SDHA/B/C/D Mutation; SDHx Mutation;

NCIt definition : A change in the nucleotide sequence of any gene that encodes one of the proteins in the succinate dehydrogenase (SDH) complex.;

Details

Origin ID

C48301;

UMLS CUI

C1709046;

Molecular abnormality of diseases
- Succinate Dehydrogenase Deficiency [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Carney-Stratakis Syndrome [NCIt concept]
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
related_to_genetic_biomarker
- SDHA Gene [NCIt concept]
- SDHAF2 Gene [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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