Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y

Preferred Label : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y;

NCIt synonyms : Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures; TOR1AIP1-Related LGMD; LGMD2Y; MRRSDC; TOR1AIP1-Related Limb-Girdle Muscular Dystrophy;

NCIt definition : An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the TOR1AIP1 gene, encoding torsin-1A-interacting protein 1.;

NCI Metathesaurus CUI : CL529023;

Details

Origin ID

C181000;

UMLS CUI

C4511482;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) [SNOMED CT concept]
- Myopathy, autosomal recessive, with rigid spine and distal joint contractures [OMIM Phenotype]
- TOR1AIP1-related limb-girdle muscular dystrophy [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2Y [DO 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)
- Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) [SNOMED CT concept]
- Myopathy, autosomal recessive, with rigid spine and distal joint contractures [OMIM Phenotype]
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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients