SDHB Gene Mutation

Preferred Label : SDHB Gene Mutation;

NCIt synonyms : SDH2 Gene Mutation; Succinate Dehydrogenase Complex Iron Sulfur Subunit B Gene Mutation; IP Gene Mutation; SDH Gene Mutation; SDHIP Gene Mutation; SDH1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SDHB gene.;

Details

Origin ID

C48302;

UMLS CUI

C1709980;

Molecular abnormality of diseases
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- SDHB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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