IDUA Gene - CISMeF

Preferred Label : IDUA Gene;

NCIt synonyms : Alpha-L-Iduronidase Gene; IDUA;

CISMeF acronym : IDUA;

NCIt definition : This gene plays a role in glycosaminoglycan metabolism.;

Details

Origin ID

C115252;

UMLS CUI

C1442485;

Automatic exact mappings (from CISMeF team)
- Alpha-L-iduronidase [OMIM gene]
- IDUA gene [LOINC component]
- alpha-L-iduronidase [ORDO Gene]
HGNC gene
- alpha-L-iduronidase [HGNC gene]
OMIM relation
- Alpha-L-iduronidase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-L-iduronidase [OMIM gene]
- IDUA gene [LOINC component]
- alpha-L-iduronidase [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Alpha-L-Iduronidase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Mucopolysaccharidosis Type I [NCIt concept]
gene_mapped_to_disease
- Hurler Syndrome [NCIt concept]
- Hurler-Scheie Syndrome [NCIt concept]
- Mucopolysaccharidosis Type I [NCIt concept]
- Scheie Syndrome [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients