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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital muscular dystrophy-dystroglycanopathy type A12
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Accession:DOID:0111235 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)
Synonyms:exact_synonym: MDDGA12;   Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
 primary_id: OMIM:615249
 alt_id: RDO:9000880
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fnta farnesyltransferase, CAAX box, alpha JBrowse link 16 70,834,957 70,854,724 RGD:8554872
G Hook3 hook microtubule-tethering protein 3 JBrowse link 16 70,710,347 70,818,789 RGD:8554872
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:8554872
G Thap1 THAP domain containing 1 JBrowse link 16 70,661,360 70,665,831 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      Walker-Warburg syndrome 27
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A12 5
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    muscular dystrophy 277
                      congenital muscular dystrophy 50
                        muscular dystrophy-dystroglycanopathy 24
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy type A12 5
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