Autosomal Recessive Limb-Girdle Muscular Dystrophy-4

Preferred Label : Autosomal Recessive Limb-Girdle Muscular Dystrophy-4;

NCIt synonyms : Limb-Girdle Muscular Dystrophy Type 2E; LGMDR4; LGMD2E; Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4;

NCIt definition : An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the SGCB gene, encoding beta-sarcoglycan.;

Détails

Origin ID

C180849;

UMLS CUI

C1858593;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 [ORDO Disease]
- Limb-girdle muscular dystrophy, type 2E [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 4 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2E [DO Concept]
- limb-girdle muscular dystrophy, type 2E [MeSH Supplementary Concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder) [SNOMED CT concept]
- Limb-girdle muscular dystrophy, type 2E [MeSH concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 4 [OMIM Phenotype]
- limb-girdle muscular dystrophy, type 2E [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
- Peripheral Nervous System [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- SGCB Gene [NCIt concept]

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

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