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muscular dystrophy-dystroglycanopathy type B5 - Ontology Report - Rat Genome Database

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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: MIM:606612
 xref: ORDO:52428

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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
ISS		 DNA:missense mutations: :p.A455D, p.V405L (human)
OMIM:606612
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | 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
MouseDO
ClinVar
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital muscular dystrophy 210
        muscular dystrophy-dystroglycanopathy 90
          muscular dystrophy-dystroglycanopathy type B 19
            muscular dystrophy-dystroglycanopathy type B5 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      congenital muscular dystrophy 210
                        muscular dystrophy-dystroglycanopathy 90
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B5 1
paths to the root