Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5;

NCIt synonyms : MDDGC5; LGMD2I; Limb-Girdle Muscular Dystrophy Type 2I;

NCIt definition : An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the gene encoding fukutin-related protein (FKRP). It is characterized by variable age at onset, normal cognition, and no structural brain changes.;

Détails

Origin ID

C126739;

UMLS CUI

C1846672;

Automatic exact mappings (from CISMeF team)
- fukutin related protein [ORDO Gene]
Currated CISMeF NLP mapping
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH concept]
Excludes anatomical site(s)
- Bone [NCIt 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 2I (disorder) [SNOMED CT concept]
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [OMIM Phenotype]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH Supplementary Concept]
- muscular dystrophy, Limb-Girdle, type 2I [MeSH 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
- FKRP Gene [NCIt concept]

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