dystrophin - CISMeF

Preferred Label : dystrophin;

Approved symbol HGNC : DMD;

Name synonyms HGNC : muscular dystrophy; Duchenne and Becker types;

Alias symbols HGNC : DXS206; DXS239; DXS270; DXS272; BMD; DXS142; DXS164; DXS230; DXS268; DXS269;

Chromosome HGNC : Xp21.2-p21.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000198947;

Détails

Origin ID

HGNC:2928;

UMLS CUI

C1414083;

Automatic exact mappings (from CISMeF team)
- Dystrophin [OMIM gene]
- Dystrophin [FMA entity]
- Dystrophin [NCIt concept]
- MUSCULAR DYSTROPHY [WHO-ART Included Term]
- Muscular Dystrophy [NCIt concept]
- Muscular dystrophy [HPMULTI term]
- Muscular dystrophy [ICD-10 Sub-category]
- Muscular dystrophy [PASCAL descriptor]
- Muscular dystrophy [ORDO Disease]
- Muscular dystrophy [ICD-11 Category]
- Muscular dystrophy [MedDRA Preferred Term]
- Muscular dystrophy [HPO term]
- Muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular dystrophy, becker type [OMIM Phenotype]
- Muscular dystrophy, duchenne type [OMIM Phenotype]
- dystrophin [ORDO Gene]
- dystrophin [MeSH Descriptor]
- dystrophin [MeSH concept]
- muscular dystrophies [MeSH concept]
- muscular dystrophies [MeSH Descriptor]
- muscular dystrophy [DO Concept]
- muscular dystrophy [MedlinePlus Topic]
- muscular dystrophy [Artificial nutrition thesaurus concept]
NCIt concept
- DMD Gene [NCIt concept]
OMIM gene
- Dystrophin [OMIM gene]
Orphanet gene
- dystrophin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DMD Gene [NCIt concept]
- DMD gene [LOINC component]
- Dystrophin [OMIM gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients