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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 A
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Accession:DOID:0111229 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)
Synonyms:exact_synonym: MDDGA;   congenital muscular alpha-dystroglycanopathy with brain and eye anomalies;   klissencephaly type 2 with muscular and ocular involvement
 xref: OMIM:PS236670;   ORDO:352687
For additional species annotation, visit the Alliance of Genome Resources.

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congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chrNW_004936474:27,221,691...27,227,226 JBrowse link
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 OMIM NCBI chrNW_004936529:1,336,002...1,338,615 JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chrNW_004936546:3,124,124...3,159,701 JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chrNW_004936546:3,160,047...3,215,591 JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chrNW_004936546:2,658,195...2,945,542 JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chrNW_004936546:3,067,206...3,120,300 JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chrNW_004936546:2,976,045...2,980,487 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chrNW_004936599:3,257,329...3,259,614 JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chrNW_004936529:1,099,510...1,171,587 JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1		 ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28166811 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chrNW_004936559:6,612,318...6,680,690 JBrowse link
G LOC101955324 fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome		 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chrNW_004936664:577,109...586,848 JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO OMIM NCBI chrNW_004936487:18,249,472...18,267,875 JBrowse link
G Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chrNW_004936488:6,102,612...6,141,842 JBrowse link
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 chrNW_004936545:2,226,238...2,247,971 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO OMIM NCBI chrNW_004936484:17,012,403...17,049,519 JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chrNW_004936484:17,048,187...17,097,414 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004936570:362,655...389,649 JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004937108:873...110,949 JBrowse link
G Pomk protein O-mannose kinase ISO OMIM NCBI chrNW_004936570:335,668...354,839 JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004937108:111,111...147,077 JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004937108:157,652...162,015 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO OMIM NCBI chrNW_004936599:3,257,329...3,259,614 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein O-mannosyltransferase 2 ISO OMIM NCBI chrNW_004936488:6,102,612...6,141,842 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO OMIM NCBI chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:22554691 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27493216 PMID:28424332 PMID:28492532 PMID:28688748 NCBI chrNW_004936474:27,221,691...27,227,226 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101955324 fukutin related protein ISO OMIM NCBI chrNW_004936664:577,109...586,848 JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ClinVar PMID:25741868 NCBI chrNW_004936664:553,682...574,240 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM NCBI chrNW_004936492:6,160,979...6,657,491 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO OMIM NCBI chrNW_004936695:2,117,506...2,141,859 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO OMIM NCBI chrNW_004936529:1,099,510...1,171,587 JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chrNW_004936529:1,099,510...1,171,587 JBrowse link
G Fktn fukutin ISO OMIM NCBI chrNW_004936559:6,612,318...6,680,690 JBrowse link
G LOC101955324 fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chrNW_004936664:577,109...586,848 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12781
    syndrome 6407
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 25
          Fukuyama congenital muscular dystrophy 3
          congenital muscular dystrophy-dystroglycanopathy A14 1
          congenital muscular dystrophy-dystroglycanopathy A7 5
          congenital muscular dystrophy-dystroglycanopathy type A1 6
          congenital muscular dystrophy-dystroglycanopathy type A10 1
          congenital muscular dystrophy-dystroglycanopathy type A11 2
          congenital muscular dystrophy-dystroglycanopathy type A12 5
          congenital muscular dystrophy-dystroglycanopathy type A13 1
          congenital muscular dystrophy-dystroglycanopathy type A2 1
          congenital muscular dystrophy-dystroglycanopathy type A3 2
          congenital muscular dystrophy-dystroglycanopathy type A5 2
          congenital muscular dystrophy-dystroglycanopathy type A6 1
          congenital muscular dystrophy-dystroglycanopathy type A8 1
          congenital muscular dystrophy-dystroglycanopathy type A9 1
Path 2
Term Annotations click to browse term
  disease 12781
    disease of anatomical entity 12463
      nervous system disease 10328
        peripheral nervous system disease 2232
          neuropathy 2075
            neuromuscular disease 1655
              muscular disease 1097
                muscle tissue disease 745
                  atrophic muscular disease 294
                    muscular dystrophy 292
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 38
                          congenital muscular dystrophy-dystroglycanopathy type A 25
                            Fukuyama congenital muscular dystrophy 3
                            congenital muscular dystrophy-dystroglycanopathy A14 1
                            congenital muscular dystrophy-dystroglycanopathy A7 5
                            congenital muscular dystrophy-dystroglycanopathy type A1 6
                            congenital muscular dystrophy-dystroglycanopathy type A10 1
                            congenital muscular dystrophy-dystroglycanopathy type A11 2
                            congenital muscular dystrophy-dystroglycanopathy type A12 5
                            congenital muscular dystrophy-dystroglycanopathy type A13 1
                            congenital muscular dystrophy-dystroglycanopathy type A2 1
                            congenital muscular dystrophy-dystroglycanopathy type A3 2
                            congenital muscular dystrophy-dystroglycanopathy type A5 2
                            congenital muscular dystrophy-dystroglycanopathy type A6 1
                            congenital muscular dystrophy-dystroglycanopathy type A8 1
                            congenital muscular dystrophy-dystroglycanopathy type A9 1
paths to the root