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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 A8
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Accession:DOID:0111231 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)
Synonyms:exact_synonym: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8;   MDDGA8;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8;   WALKER-WARBURG SYNDROME, GTDC2-RELATED;   Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
 primary_id: OMIM:614830
 alt_id: RDO:9000583
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    syndrome 6155
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A8 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy type A8 1
paths to the root