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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 ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar
OMIM
PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr12:87,106,861...87,147,968
Ensembl chr12:87,106,861...87,147,968
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13497
    syndrome 6591
      Walker-Warburg syndrome 34
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A2 1
Path 2
Term Annotations click to browse term
  disease 13497
    disease of anatomical entity 12980
      nervous system disease 10520
        peripheral nervous system disease 2436
          neuropathy 2262
            neuromuscular disease 1787
              muscular disease 1186
                muscle tissue disease 810
                  atrophic muscular disease 309
                    muscular dystrophy 307
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy type A2 1
paths to the root