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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 type B4
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Accession:DOID:0112379 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. (DO)
Synonyms:exact_synonym: MDDGB4;   Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4;   congenital muscular dystrophy, FKTN-related;   congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4
 primary_id: OMIM:613152
 alt_id: DOID:9005845


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital muscular dystrophy 177
        muscular dystrophy-dystroglycanopathy 67
          muscular dystrophy-dystroglycanopathy type B 19
            muscular dystrophy-dystroglycanopathy type B4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      congenital muscular dystrophy 177
                        muscular dystrophy-dystroglycanopathy 67
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B4 1
paths to the root