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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 A13
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Accession:DOID:0111238 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)
Synonyms:exact_synonym: MDDGA13;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13;   Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related;   Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related;   Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
 primary_id: OMIM:615287
 alt_id: RDO:9000895


show annotations for term's descendants           Sort by:
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 More... NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Brms1 breast cancer metastasis-suppressor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,091,391...5,099,940
Ensembl chr19:5,091,382...5,099,945 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,012,180...5,017,023
Ensembl chr19:5,012,175...5,017,027 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344 		JBrowse link
G Peli3 pellino 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,979,745...4,993,155
Ensembl chr19:4,979,745...4,993,155 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,100,035...5,107,100
Ensembl chr19:5,100,509...5,107,099 		JBrowse link
G Slc29a2 solute carrier family 29 (nucleoside transporters), member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,069,085...5,082,000
Ensembl chr19:5,073,888...5,082,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Walker-Warburg syndrome 70
        congenital muscular dystrophy-dystroglycanopathy type A 57
          congenital muscular dystrophy-dystroglycanopathy type A13 9
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              muscular disease 2168
                muscle tissue disease 1314
                  atrophic muscular disease 605
                    muscular dystrophy 601
                      congenital muscular dystrophy 181
                        muscular dystrophy-dystroglycanopathy 67
                          congenital muscular dystrophy-dystroglycanopathy type A 57
                            congenital muscular dystrophy-dystroglycanopathy type A13 9
paths to the root