Pheochromocytoma/paraganglioma syndrome 5

Preferred Label : Pheochromocytoma/paraganglioma syndrome 5;

Symbol : PPGL5;

CISMeF acronym : PGL5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PGL5; Paragangliomas 5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, 600857.0005);

Neoplasia : Paraganglioma;

Prefixed ID : #614165;

Details

Origin ID

614165;

UMLS CUI

C3279992;

Automatic exact mappings (from CISMeF team)
- SDHA wt Allele [NCIt concept]
DO Cross reference
- paraganglioma [DO Concept]
Genes related to phenotype
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Paraganglioma [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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