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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:9536098 PMID:9832045 PMID:10735275 PMID:10838250 PMID:10974018 PMID:12794684 PMID:14564412 PMID:16432241 PMID:17164264 PMID:17576681 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 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
paths to the root