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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 A2
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Accession:DOID:0111240 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)
Synonyms:exact_synonym: MDDGA2;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
 primary_id: OMIM:613150
 xref: NCI:C126742
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein O-mannosyltransferase 2 ISO OMIM NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12519
    syndrome 6288
      Walker-Warburg syndrome 32
        congenital muscular dystrophy-dystroglycanopathy type A 25
          congenital muscular dystrophy-dystroglycanopathy type A2 1
Path 2
Term Annotations click to browse term
  disease 12519
    disease of anatomical entity 12202
      nervous system disease 10113
        peripheral nervous system disease 2205
          neuropathy 2051
            neuromuscular disease 1632
              muscular disease 1087
                muscle tissue disease 736
                  atrophic muscular disease 285
                    muscular dystrophy 283
                      congenital muscular dystrophy 69
                        muscular dystrophy-dystroglycanopathy 38
                          congenital muscular dystrophy-dystroglycanopathy type A 25
                            congenital muscular dystrophy-dystroglycanopathy type A2 1
paths to the root