ELP1-Medulloblastoma Syndrome

Preferred Label : ELP1-Medulloblastoma Syndrome;

NCIt definition : An autosomal dominant syndrome caused by germline ELP1 gene variations and characterized by an increased risk of developing SHH-activated, TP53-wildtype medulloblastoma during childhood.;

NCI Metathesaurus CUI : CL1778776;

Details

Origin ID

C186592;

UMLS CUI

C5670653;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_associated_disease
- ELP1-Associated Medulloblastoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Germline ELP1 Gene Variation [NCIt concept]
disease_mapped_to_gene
- ELP1 Gene [NCIt concept]
disease_may_have_associated_disease
- ELP1-Associated Medulloblastoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- ELP1 Gene [NCIt concept]
- ELP1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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