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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24
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Accession:DOID:9001671 term browser browse the term
Definition:An autosomal recessive muscular dystrophy with onset in childhood. Common features include calf hypertrophy, increased serum creatine kinase, and muscle biopsy often shows dystrophic features.
Synonyms:exact_synonym: Autosomal Recessive Limb-Girdle Muscular Dystrophy 24;   LGMDR24;   MDDGC8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
 primary_id: OMIM:618135
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chrNW_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12519
    Developmental Disease 9309
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7860
        genetic disease 7447
          monogenic disease 5732
            autosomal genetic disease 5026
              autosomal recessive disease 3000
                autosomal recessive limb-girdle muscular dystrophy 100
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
Path 2
Term Annotations click to browse term
  disease 12519
    disease of anatomical entity 12202
      nervous system disease 10113
        peripheral nervous system disease 2205
          neuropathy 2051
            neuromuscular disease 1632
              muscular disease 1087
                muscle tissue disease 736
                  myopathy 580
                    muscular dystrophy 283
                      limb-girdle muscular dystrophy 141
                        autosomal recessive limb-girdle muscular dystrophy 100
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
paths to the root