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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 characteried 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 FKTN 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
For additional species annotation, visit the Alliance of Genome Resources.



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muscular dystrophy-dystroglycanopathy type B4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED OMIM
ClinVar
PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital muscular dystrophy 116
        muscular dystrophy-dystroglycanopathy 69
          muscular dystrophy-dystroglycanopathy type B 19
            muscular dystrophy-dystroglycanopathy type B4 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        peripheral nervous system disease 3016
          neuropathy 2803
            neuromuscular disease 2222
              muscular disease 1452
                muscle tissue disease 950
                  myopathy 779
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B4 1
paths to the root