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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 chr 8:25,998,688...26,015,610
Ensembl chr 8:25,998,722...26,015,650
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 chr 8:26,021,421...26,119,618
Ensembl chr 8:26,021,421...26,119,224
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 OMIM:615249
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr 8:25,980,604...25,994,121
Ensembl chr 8:25,980,604...25,994,133
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 chr 8:26,119,368...26,143,875
Ensembl chr 8:26,119,368...26,151,790
JBrowse link
G Thap1 THAP domain containing, apoptosis associated protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,158,169...26,164,151
Ensembl chr 8:26,158,141...26,164,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14269
    syndrome 7099
      Walker-Warburg syndrome 34
        congenital muscular dystrophy-dystroglycanopathy type A 25
          congenital muscular dystrophy-dystroglycanopathy type A12 5
Path 2
Term Annotations click to browse term
  disease 14269
    disease of anatomical entity 13873
      nervous system disease 11392
        peripheral nervous system disease 2425
          neuropathy 2249
            neuromuscular disease 1803
              muscular disease 1210
                muscle tissue disease 833
                  atrophic muscular disease 311
                    muscular dystrophy 309
                      congenital muscular dystrophy 71
                        muscular dystrophy-dystroglycanopathy 38
                          congenital muscular dystrophy-dystroglycanopathy type A 25
                            congenital muscular dystrophy-dystroglycanopathy type A12 5
paths to the root