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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-Dystroglycanopathy (congenital without mental retardation), Type B, 4
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Accession:DOID:9005845 term browser browse the term
Synonyms:exact_synonym: MDDGB4;   congenital muscular dystrophy, FKTN-related;   congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4
 primary_id: OMIM:613152
For additional species annotation, visit the Alliance of Genome Resources.


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Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO OMIM NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12523
    physical disorder 2755
      congenital muscular dystrophy 69
        muscular dystrophy-dystroglycanopathy 38
          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
Path 2
Term Annotations click to browse term
  disease 12523
    disease of anatomical entity 12204
      nervous system disease 10124
        peripheral nervous system disease 2209
          neuropathy 2055
            neuromuscular disease 1636
              muscular disease 1092
                muscle tissue disease 741
                  atrophic muscular disease 286
                    muscular dystrophy 284
                      congenital muscular dystrophy 69
                        muscular dystrophy-dystroglycanopathy 38
                          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
paths to the root