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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:congenital muscular dystrophy-dystroglycanopathy type A5
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Accession:DOID:0111241 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)
Synonyms:exact_synonym: MDDGA5;   Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
 primary_id: OMIM:613153

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congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chrNW_004955574:752,848...771,664
Ensembl chrNW_004955574:752,848...771,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Walker-Warburg syndrome 69
        congenital muscular dystrophy-dystroglycanopathy type A 57
          congenital muscular dystrophy-dystroglycanopathy type A5 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  atrophic muscular disease 558
                    muscular dystrophy 554
                      congenital muscular dystrophy 172
                        muscular dystrophy-dystroglycanopathy 66
                          congenital muscular dystrophy-dystroglycanopathy type A 57
                            congenital muscular dystrophy-dystroglycanopathy type A5 2
paths to the root