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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 A3
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Accession:DOID:0111236 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)
Synonyms:exact_synonym: MDDGA3;   Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
 primary_id: OMIM:253280
 xref: NCI:C126740
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28492532 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link

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 A3 2
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 A3 2
paths to the root