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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;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
 primary_id: MIM:615249


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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, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		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 chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		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 chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		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 chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      Walker-Warburg syndrome 71
        congenital muscular dystrophy-dystroglycanopathy type A 58
          congenital muscular dystrophy-dystroglycanopathy type A12 6
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        peripheral nervous system disease 4257
          neuropathy 4041
            neuromuscular disease 3183
              muscular disease 2206
                muscle tissue disease 1339
                  atrophic muscular disease 672
                    muscular dystrophy 668
                      congenital muscular dystrophy 211
                        muscular dystrophy-dystroglycanopathy 91
                          congenital muscular dystrophy-dystroglycanopathy type A 58
                            congenital muscular dystrophy-dystroglycanopathy type A12 6
paths to the root