Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   LGMDR6;   autosomal recessive limb-girdle muscular dystrophy 6;   limb-girdle muscular dystrophy 2F;   limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency;   limb-girdle muscular dystrophy type 2F;   limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
 narrow_synonym: autosomal recessive limb-girdle muscular dystrophy 6, digenic;   limb-girdle muscular dystrophy type 2f, digenic
 primary_id: MESH:C535896
 alt_id: OMIA:002122;   OMIM:601287
 xref: ORDO:219


show annotations for term's descendants           Sort by:
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 (dystrophin-associated glycoprotein) ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:601287
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC		 OMIM
CTD
MouseDO
ClinVar		 PMID:8841194 PMID:9536098 PMID:9832045 PMID:10735275 PMID:10838250 More... NCBI chr11:46,861,904...47,880,309
Ensembl chr11:46,787,080...47,879,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6605
                autosomal recessive limb-girdle muscular dystrophy 114
                  autosomal recessive limb-girdle muscular dystrophy type 2F 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              muscular disease 2168
                muscle tissue disease 1314
                  myopathy 1030
                    muscular dystrophy 601
                      limb-girdle muscular dystrophy 199
                        autosomal recessive limb-girdle muscular dystrophy 114
                          autosomal recessive limb-girdle muscular dystrophy type 2F 1
paths to the root