Glioma susceptibility 3

Preferred Label : Glioma susceptibility 3;

Symbol : GLM3;

CISMeF acronym : GLM3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Susceptibility conferred by mutation in the BRCA2 gene (BRCA2, 600185.0027);

Neoplasia : Medulloblastoma; Glioblastoma; Astrocytoma; Brain tumors, multiple types;

Prefixed ID : #613029;

Détails

Origin ID

613029;

UMLS CUI

C2751641;

Automatic exact mappings (from CISMeF team)
- BRCA2 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Glioblastoma [ORDO Disease]
Genes related to phenotype
- Brca2 dna repair-associated protein [OMIM gene]
HPO term(s)
- Astrocytoma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Glioblastoma multiforme [HPO term]
- Medulloblastoma [HPO term]
ORDO concept(s)
- Glial tumor [ORDO Disease]
- Glioblastoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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

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