PHOX2B Gene Mutation

Preferred Label : PHOX2B Gene Mutation;

NCIt synonyms : NBLST2 Gene Mutation; Paired-Like Homeobox 2b Gene Mutation; Neuroblastoma Paired-Type Homeobox Gene Mutation; PMX2B Gene Mutation; Paired Mesoderm Homeobox 2b Gene Mutation; NBPhox Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PHOX2B gene.;

NCI Metathesaurus CUI : CL522524;

Details

Origin ID

C135016;

UMLS CUI

C4525556;

Molecular abnormality of diseases
- Hereditary Neuroblastoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- PHOX2B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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