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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 ClinVar Annotator: match by OMIM:614830
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Walker-Warburg syndrome 34
        congenital muscular dystrophy-dystroglycanopathy type A 25
          congenital muscular dystrophy-dystroglycanopathy type A8 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  atrophic muscular disease 317
                    muscular dystrophy 315
                      congenital muscular dystrophy 71
                        muscular dystrophy-dystroglycanopathy 38
                          congenital muscular dystrophy-dystroglycanopathy type A 25
                            congenital muscular dystrophy-dystroglycanopathy type A8 1
paths to the root