.
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 - Ontology Report - Rat Genome Database

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 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
Advanced Search (OLGA)

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:Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1
go back to main search page
Accession:DOID:9001244 term browser browse the term
Definition:An autosomal recessive disorder of skeletal muscle characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12.
Synonyms:exact_synonym: MMCKR;   MMCKR1;   Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis
 xref: MIM:620138;   MONDO:0859322

 Loading Annotations... 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
X

show annotations for term's descendants           Sort by:
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis ClinVar PMID:25741868 PMID:36799992 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Mlip muscular LMNA-interacting protein ISO ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM
ClinVar		 PMID:25741868 PMID:34581780 PMID:34935254 PMID:35672413 PMID:35915960 NCBI chr 8:86,815,491...87,085,117
Ensembl chr 8:77,935,079...78,204,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        muscular disease 2239
          Myalgia 7
            Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        peripheral nervous system disease 4410
          neuropathy 4196
            neuromuscular disease 3234
              muscular disease 2239
                Musculoskeletal Pain 10
                  Myalgia 7
                    Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 2
paths to the root