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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_004936559:6,612,318...6,680,690 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12785
    physical disorder 2787
      congenital muscular dystrophy 70
        muscular dystrophy-dystroglycanopathy 38
          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
Path 2
Term Annotations click to browse term
  disease 12785
    disease of anatomical entity 12465
      nervous system disease 10338
        peripheral nervous system disease 2236
          neuropathy 2079
            neuromuscular disease 1659
              muscular disease 1102
                muscle tissue disease 750
                  atrophic muscular disease 295
                    muscular dystrophy 293
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 38
                          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
paths to the root