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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 A14
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Accession:DOID:0111233 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. (DO)
Synonyms:exact_synonym: MDDGA14;   Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14
 primary_id: OMIM:615350
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by OMIM:615350
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
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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 A14 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 A14 1
paths to the root