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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:Rhabdomyolysis
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Accession:DOID:9000884 term browser browse the term
Definition:Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
Synonyms:exact_synonym: OBSCN-RELATED CONDITION;   Rhabdomyolyses
 related_synonym: RHABDO1;   Rhabdomyolysis, susceptibility to, 1
 primary_id: MESH:D012206
 alt_id: OMIM:620235
 xref: EFO:0003867


show annotations for term's descendants           Sort by:
Rhabdomyolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:9546340 PMID:9973285 PMID:11158518 PMID:14517516 PMID:15210884 More... NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 PMID:18211827 More... NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 IEP protein:increased activity:liver (rat) RGD PMID:16846079 RGD:4144834 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:8358442 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095 		JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15365880
G Dbnl drebrin-like ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr14:80,666,115...80,681,155
Ensembl chr14:80,666,124...80,681,155 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:32581362 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP protein:increased expression:urine RGD PMID:22937747 RGD:7245499 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:25741868 PMID:30755392 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:21726176 RGD:10766438 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:16642020 PMID:25741868 PMID:28492532 PMID:28779239 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF susceptibility ISO ClinVar Annotator: match by term: OBSCN-related condition | ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:34957489 NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:8037209 PMID:8444874 PMID:8880699 PMID:9389749 PMID:24033266 More... NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:25741868 PMID:28779239 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:1316765 PMID:7676326 PMID:7809121 PMID:8005599 PMID:8110459 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097 		JBrowse link
Exertional Myalgia, Muscle Stiffness and Myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria ClinVar PMID:19367636 PMID:21104870 PMID:25637381 PMID:25741868 PMID:26365249 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase IEP protein:decreased activity:kidney: RGD PMID:15452363 RGD:7257577 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940 		JBrowse link
Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30120216 PMID:32843486 NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
Recurrent Myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Myoglobinuria, recurrent ClinVar PMID:10980727 PMID:32906214 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
Rhabdomyolysis, Cerivastatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CYP2C8-RELATED ClinVar
OMIM		 PMID:15365880
TANGO2-related metabolic encephalopathy and arrythmias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | ClinVar Annotator: match by term: TANGO2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        muscular disease 2141
          Rhabdomyolysis 28
            Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
            Rhabdomyolysis, Cerivastatin-Induced 1
            TANGO2-related metabolic encephalopathy and arrythmias 2
            myoglobinuria + 6
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                Rhabdomyolysis 28
                  Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
                  Rhabdomyolysis, Cerivastatin-Induced 1
                  TANGO2-related metabolic encephalopathy and arrythmias 2
                  myoglobinuria + 6
paths to the root