DMD wt Allele - CISMeF

Preferred Label : DMD wt Allele;

NCIt synonyms : DXS239; Dystrophin (Muscular Dystrophy, Duchenne And Becker Types) wt Allele; DXS230; CMD3B; DXS164; DXS268; BMD; DXS272; DXS142; DXS270; DXS206;

NCIt definition : Human DMD wild-type allele is located in the vicinity of Xp21.2 and is approximately 2225 kb in length. This allele, which encodes dystrophin protein, plays a role in muscle cell development. Mutation of the gene is associated with cardiomyopathy dilated X-linked type 3B and with both the Duchenne and Becker types of muscular dystrophy.;

NCIt note : The DMD gene is the largest known human gene.;

GenBank Accession Number : AF047505;

Details

Origin ID

C75321;

UMLS CUI

C2699549;

Automatic exact mappings (from CISMeF team)
- Best vitelliform macular dystrophy [ORDO Disease]
- Cardiomyopathy, dilated, 3b [OMIM Phenotype]
- Dmd-Associated dilated cardiomyopathy [MeSH Supplementary Concept]
- Muscular dystrophy, becker type [OMIM Phenotype]
- X-linked dilated cardiomyopathy [DO Concept]
- bestrophin 1 [ORDO Gene]
- dystrophin [ORDO Gene]
- muscular dystrophy, duchenne [MeSH Descriptor]
False automatic mappings
- Becker muscular dystrophy [ORDO Disease]
- Macular dystrophy, vitelliform, 2 [OMIM Phenotype]
OMIM relation
- Dystrophin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Organogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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