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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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, alpha IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788
JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535
JBrowse link
G MIR4469 microRNA 4469 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,197...42,896,275
Ensembl chr 8:42,896,197...42,896,275
JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,294
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    syndrome 8478
      Walker-Warburg syndrome 37
        congenital muscular dystrophy-dystroglycanopathy type A 28
          congenital muscular dystrophy-dystroglycanopathy type A12 6
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        peripheral nervous system disease 2621
          neuropathy 2430
            neuromuscular disease 1951
              muscular disease 1291
                muscle tissue disease 889
                  atrophic muscular disease 347
                    muscular dystrophy 345
                      congenital muscular dystrophy 80
                        muscular dystrophy-dystroglycanopathy 41
                          congenital muscular dystrophy-dystroglycanopathy type A 28
                            congenital muscular dystrophy-dystroglycanopathy type A12 6
paths to the root