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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 B5
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Accession:DOID:0110635 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)
Synonyms:exact_synonym: MDC1C;   MDDGB5;   congenital muscular dystrophy 1C;   congenital muscular dystrophy, FKRP-related;   congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development, type B5;   muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5;   muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
 narrow_synonym: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;   Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
 primary_id: MESH:C564691
 alt_id: OMIM:606612
 xref: ORDO:52428
For additional species annotation, visit the Alliance of Genome Resources.


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muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO OMIM NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        muscular dystrophy-dystroglycanopathy 37
          muscular dystrophy-dystroglycanopathy type B5 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          muscular dystrophy-dystroglycanopathy type B5 1
paths to the root