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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 chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13584
    Developmental Disease 10017
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8352
        genetic disease 7908
          monogenic disease 6046
            autosomal genetic disease 5256
              autosomal recessive disease 3110
                autosomal recessive limb-girdle muscular dystrophy 104
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
Path 2
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      nervous system disease 10954
        peripheral nervous system disease 2323
          neuropathy 2155
            neuromuscular disease 1722
              muscular disease 1150
                muscle tissue disease 781
                  myopathy 619
                    muscular dystrophy 295
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 104
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
paths to the root