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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: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
OMIM
ClinVar
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27439679 PMID:28454995 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740, PMID:14652796 RGD:1358626 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital muscular dystrophy 71
        muscular dystrophy-dystroglycanopathy 37
          muscular dystrophy-dystroglycanopathy type B5 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  atrophic muscular disease 314
                    muscular dystrophy 312
                      congenital muscular dystrophy 71
                        muscular dystrophy-dystroglycanopathy 37
                          muscular dystrophy-dystroglycanopathy type B5 1
paths to the root