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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:central core disease
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Accession:DOID:3529 term browser browse the term
Definition:A congenital structural myopathy that is characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. (DO)
Synonyms:exact_synonym: CCD;   CCO;   Shy Magee syndrome;   central core disease of muscle;   central core diseases;   central core myopathies;   central core myopathy;   congenital myopathy with cores
 narrow_synonym: CNMDU1;   Central Core Disease, Autosomal Recessive;   congenital neuromuscular disease with uniform type 1 fiber;   moderate minicore myopathy with hand involvement
 primary_id: MESH:D020512
 alt_id: OMIM:117000
 xref: GARD:6014;   ICD10CM:G71.29;   NCI:C83010;   ORDO:597
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
central core disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
JBrowse link
G Atp13a4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr11:71,222,196...71,359,933
Ensembl chr11:71,226,161...71,359,933
JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:74,749,662...74,759,553
Ensembl chr16:74,749,662...74,759,774
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Shy-Magee syndrome ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Congenital myopathy with cores | ClinVar Annotator: match by term: Shy-Magee syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12434 PMID:1256913 PMID:1743490 PMID:4149045 PMID:7547049 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:11709545 PMID:11741831 PMID:12565913 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      congenital structural myopathy 170
        central core disease 7
          Chudley-Rozdilsky Syndrome 0
          Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
          Moderate Minicore Myopathy, with Hand Involvement 0
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        peripheral nervous system disease 2989
          neuropathy 2780
            neuromuscular disease 2199
              muscular disease 1431
                muscle tissue disease 947
                  myopathy 777
                    congenital structural myopathy 170
                      central core disease 7
                        Chudley-Rozdilsky Syndrome 0
                        Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
                        Moderate Minicore Myopathy, with Hand Involvement 0
paths to the root