SDHD Gene Mutation

Preferred Label : SDHD Gene Mutation;

NCIt synonyms : Succinate Dehydrogenase Complex Subunit D Gene Mutation; cybS Gene Mutation; SDH4 Gene Mutation; CII-4 Gene Mutation;

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

Détails

Origin ID

C48304;

UMLS CUI

C1709982;

Molecular abnormality of diseases
- Advanced Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Metastatic Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
- Unresectable Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [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
- SDHD Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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