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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 A10
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Accession:DOID:0111239 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)
Synonyms:exact_synonym: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10;   MDDGA10;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10
 primary_id: OMIM:615041
 alt_id: RDO:9000580
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RXYLT1 ribitol xylosyltransferase 1 ISO OMIM NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    syndrome 6221
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A10 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy type A10 1
paths to the root