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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 A6
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Accession:DOID:0111242 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. (DO)
Synonyms:exact_synonym: MDDGA6;   Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
 primary_id: OMIM:613154
 xref: NCI:C126743


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congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Walker-Warburg syndrome 70
        congenital muscular dystrophy-dystroglycanopathy type A 57
          congenital muscular dystrophy-dystroglycanopathy type A6 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        peripheral nervous system disease 3993
          neuropathy 3802
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  atrophic muscular disease 591
                    muscular dystrophy 587
                      congenital muscular dystrophy 179
                        muscular dystrophy-dystroglycanopathy 67
                          congenital muscular dystrophy-dystroglycanopathy type A 57
                            congenital muscular dystrophy-dystroglycanopathy type A6 1
paths to the root