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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 2F
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Accession:DOID:0110280 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)
Synonyms:exact_synonym: DELTA-SARCOGLYCANOPATHY;   LGMD2F;   LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2F;   limb-girdle muscular dystrophy 2F;   limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency;   limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
 narrow_synonym: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC;   limb-girdle muscular dystrophy type 2f, digenic
 primary_id: MESH:C535896
 alt_id: OMIA:002122;   OMIM:601287;   RDO:0001260
 xref: ORDO:219
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgcd sarcoglycan, delta ISO ClinVar Annotator: match by OMIM:601287
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2F
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2f, digenic
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F
OMIM
ClinVar
CTD
PMID:8841194, PMID:9832045, PMID:10735275, PMID:10838250, PMID:10974018, PMID:12794684, PMID:14564412, PMID:16432241, PMID:17164264, PMID:17994539, PMID:18285821, PMID:18414213, PMID:19259135, PMID:19770540, PMID:19771157, PMID:20675662, PMID:22095924, PMID:22337857, PMID:23695275, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25637381, PMID:25741868, PMID:26077850, PMID:26084686, PMID:26467025, PMID:26633542, PMID:26968544, PMID:27532257, PMID:28401079, PMID:28492532, PMID:28687063 NCBI chr10:32,062,946...32,471,454
Ensembl chr10:32,062,946...32,471,454
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  myopathy 670
                    muscular dystrophy 327
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.