Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 myopathy 8
go back to main search page
Accession:DOID:0081342 term browser browse the term
Definition:A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. (DO)
Synonyms:exact_synonym: CMYP8;   Congenital Myopathy with Structured Cores and Z-Line Abnormalities;   MSCD;   MULTIPLE STRUCTURED CORE DISEASE;   MYOCOZ
 alt_id: DOID:9004417;   OMIM:618654


show annotations for term's descendants           Sort by:
congenital myopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities OMIM
ClinVar		 PMID:9536098 PMID:14567970 PMID:17576681 PMID:20022194 PMID:20474083 More... NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                congenital myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      congenital myopathy 8 1
paths to the root