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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:Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1
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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


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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 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:34581780 PMID:34935254 PMID:35672413 PMID:35915960 NCBI chr 8:77,935,087...78,204,725
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 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        muscular disease 2219
          Myalgia 7
            Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                Musculoskeletal Pain 10
                  Myalgia 7
                    Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 1
paths to the root