SDHAF2 Gene Mutation

Preferred Label : SDHAF2 Gene Mutation;

NCIt synonyms : Succinate Dehydrogenase Complex Assembly Factor 2 Gene Mutation; PGL2 Gene Mutation; SDH5 Gene Mutation; C11orf79 Gene Mutation; Paraganglioma or Familial Glomus Tumors 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SDHAF2 gene.;

NCI Metathesaurus CUI : CL937161;

Details

Origin ID

C157451;

UMLS CUI

C4763627;

Molecular abnormality of diseases
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [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
- SDHAF2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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