.
congenital muscular dystrophy-dystroglycanopathy type A1 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 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;   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;   hydrocephalus, agyria, and retinal dysplasia;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
 primary_id: MIM:236670
 xref: NCI:C128118

 Loading Annotations... 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
X

show annotations for term's descendants           Sort by:
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 A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G FKRP 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: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | 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 A1 ClinVar PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebroocular dysplasia muscular dystrophy syndrome | 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 A1 OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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 A1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    syndrome 10619
      Walker-Warburg syndrome 71
        congenital muscular dystrophy-dystroglycanopathy type A 57
          congenital muscular dystrophy-dystroglycanopathy type A1 8
Path 2
Term Annotations click to browse term
  disease 15755
    disease of anatomical entity 15375
      nervous system disease 13499
        peripheral nervous system disease 4308
          neuropathy 4116
            neuromuscular disease 3182
              muscular disease 2216
                muscle tissue disease 1349
                  myopathy 1042
                    muscular dystrophy 653
                      congenital muscular dystrophy 212
                        muscular dystrophy-dystroglycanopathy 90
                          congenital muscular dystrophy-dystroglycanopathy type A 57
                            congenital muscular dystrophy-dystroglycanopathy type A1 8
paths to the root