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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:MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
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Accession:DOID:9005846 term browser browse the term
Definition:This disease is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase, elevated fasting blood glucose levels, and normal cholesterol levels.
Synonyms:exact_synonym: LGMDR28;   MYOPATHY, LIMB-GIRDLE, ADULT-ONSET;   MYPLG;   autosomal recessive limb-girdle muscular dystrophy-28
 primary_id: OMIM:620375


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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 28 OMIM
ClinVar		 PMID:25741868 PMID:36745799 PMID:37167966 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                autosomal recessive limb-girdle muscular dystrophy 113
                  MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      limb-girdle muscular dystrophy 198
                        autosomal recessive limb-girdle muscular dystrophy 113
                          MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 1
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