Limb-Girdle Muscular Dystrophy Type 2Z

Preferred Label : Limb-Girdle Muscular Dystrophy Type 2Z;

NCIt synonyms : LGMD2Z; Autosomal Recessive Muscular Dystrophy Limb-Girdle 21; LGMDR21;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.;

NCI Metathesaurus CUI : CL540141;

Details

Origin ID

C142082;

UMLS CUI

C4310660;

Currated CISMeF NLP mapping
- Muscular dystrophy, limb-girdle, autosomal recessive 21 [OMIM Phenotype]
- POGLUT1-related limb-girdle muscular dystrophy R21 [ORDO Disease]
- Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) [SNOMED CT concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy, limb-girdle, autosomal recessive 21 [OMIM Phenotype]
- Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

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