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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 DNA:missense mutations: :p.A455D, p.V405L (human)
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5
OMIM
ClinVar
RGD
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital muscular dystrophy 116
        muscular dystrophy-dystroglycanopathy 69
          muscular dystrophy-dystroglycanopathy type B5 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  atrophic muscular disease 419
                    muscular dystrophy 417
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          muscular dystrophy-dystroglycanopathy type B5 1
paths to the root