Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital muscular dystrophy-dystroglycanopathy type A1
go back to main search page
Accession:DOID:0111237 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)
Synonyms:exact_synonym: COD MD syndrome;   COD-MD syndromes;   HARD syndrome;   HARD syndromes;   Hydrocephalus, Agyria, And Retinal Dysplasia;   MDDGA1;   Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related;   cerebroocular dysplasia-muscular dystrophy syndrome;   congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type A1;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
 primary_id: OMIM:236670
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:13592920
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
RGD:13592920
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Walker-Warburg syndrome 27
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy type A1 6
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            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 A1 6
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.