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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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12785
    syndrome 6412
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 25
          congenital muscular dystrophy-dystroglycanopathy type A12 5
Path 2
Term Annotations click to browse term
  disease 12785
    disease of anatomical entity 12465
      nervous system disease 10338
        peripheral nervous system disease 2236
          neuropathy 2079
            neuromuscular disease 1659
              muscular disease 1102
                muscle tissue disease 750
                  atrophic muscular disease 295
                    muscular dystrophy 293
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 38
                          congenital muscular dystrophy-dystroglycanopathy type A 25
                            congenital muscular dystrophy-dystroglycanopathy type A12 5
paths to the root