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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:Fukuyama congenital muscular dystrophy
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Accession:DOID:0050559 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)
Synonyms:exact_synonym: FCMD;   Fukuyama CMD;   Fukuyama Muscular Dystrophy;   Fukuyama Syndrome;   Fukuyama Type Congenital Muscular Dystrophy;   Fukuyama type cerebromuscular dystrophy;   MDDGA4;   Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related;   Walker-Warburg syndrome, FKTN-related;   muscular dystrophy due to defective glycosylation of dystroglycan 4A;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4
 primary_id: MESH:C567727
 alt_id: OMIM:253800
 xref: GARD:6475;   ORDO:272
For additional species annotation, visit the Alliance of Genome Resources.


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Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,329...32,092,453
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G FKTN fukutin ISO OMIM NCBI chr 1:246,852,387...246,916,650 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    syndrome 6155
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 24
          Fukuyama congenital muscular dystrophy 3
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            Fukuyama congenital muscular dystrophy 3
paths to the root