Biallelic IDUA Gene Mutation

Preferred Label : Biallelic IDUA Gene Mutation;

NCIt synonyms : Biallelic IDA Gene Mutation; IDUA Biallelic Gene Mutation; Biallelic IDUA Mutation; Biallelic Alpha-L-Iduronidase Gene Mutation; IDUA Biallelic Mutation;

NCIt definition : The presence of mutations in both alleles of the IDUA gene.;

NCI Metathesaurus CUI : CL1927050;

Details

Origin ID

C204836;

UMLS CUI

C5910016;

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
- IDUA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients