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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 ClinVar Annotator: match by OMIM:613152
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
OMIM
ClinVar
PMID:17044012 PMID:17878207 PMID:19015585 PMID:19179078 PMID:19299310 PMID:19396839 PMID:20961758 PMID:23582336 PMID:24033266 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26923585 PMID:28492532 PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital muscular dystrophy 71
        muscular dystrophy-dystroglycanopathy 38
          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      congenital muscular dystrophy 71
                        muscular dystrophy-dystroglycanopathy 38
                          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
paths to the root