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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


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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 term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Walker-Warburg syndrome 70
        congenital muscular dystrophy-dystroglycanopathy type A 57
          congenital muscular dystrophy-dystroglycanopathy A14 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          neuropathy 3911
            neuromuscular disease 3075
              muscular disease 2167
                muscle tissue disease 1313
                  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 A14 1
paths to the root