Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1

Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1;

NCIt synonyms : MDDGC1; Limb-Girdle Muscular Dystrophy Type 2K; LGMD2K;

NCIt definition : An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation without structural brain abnormalities and limb-girdle muscular dystrophy.;

Détails

Origin ID

C133730;

UMLS CUI

C1836373;

Automatic exact mappings (from CISMeF team)
- Walker-Warburg syndrome [MeSH Descriptor]
- protein O-mannosyltransferase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2K (disorder) [SNOMED CT concept]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 [OMIM Phenotype]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2K [DO Concept]
- muscular dystrophy, Limb-Girdle, type 2K [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 2K (disorder) [SNOMED CT concept]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 [OMIM Phenotype]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- limb girdle muscular dystrophy type 2k [Disease (Nov.)]
- muscular dystrophy, Limb-Girdle, type 2K [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
- POMT1 Gene [NCIt concept]

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

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