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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital muscular dystrophy-dystroglycanopathy type A8
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Accession:DOID:0111231 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)
Synonyms:exact_synonym: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8;   MDDGA8;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8;   WALKER-WARBURG SYNDROME, GTDC2-RELATED;   Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
 primary_id: OMIM:614830
 alt_id: RDO:9000583
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congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Walker-Warburg syndrome 27
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A8 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      congenital muscular dystrophy 50
                        muscular dystrophy-dystroglycanopathy 24
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy type A8 1
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