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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: Rhabdomyolyses
 primary_id: MESH:D012206;   RDO:0006172
For additional species annotation, visit the Alliance of Genome Resources.


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:15210884 PMID:20060901 PMID:24801231 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:15024124 PMID:16736098 PMID:18211827 PMID:25741868 PMID:28647132 PMID:28779239 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 IEP protein:increased activity:liver (rat) RGD PMID:16846079 RGD:4144834 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
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 PMID:8651281 PMID:8786066 PMID:9309694 PMID:9600456 PMID:10090476 PMID:10398215 PMID:11855939 PMID:12673791 PMID:12707442 PMID:15642848 PMID:15776096 PMID:16168441 PMID:16225172 PMID:16996287 PMID:17936304 PMID:18550408 PMID:20301431 PMID:20810031 PMID:21913903 PMID:22975760 PMID:23184072 PMID:24033266 PMID:24398345 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27629963 PMID:28492532 PMID:28779239 PMID:29478820 PMID:29744303 PMID:30149802 PMID:30609409 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15365880 NCBI chr 1:147,236,480...147,307,988 JBrowse link
G Dbnl drebrin-like ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr14:86,029,335...86,044,364
Ensembl chr14:86,029,335...86,044,364
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:32581362 NCBI chr10:56,625,845...56,655,543
Ensembl chr10:56,627,411...56,653,599
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP protein:increased expression:urine RGD PMID:22937747 RGD:7245499 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:21726176 RGD:10766438 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12243603 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:16642020 PMID:25741868 PMID:28779239 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:7825568 PMID:8037209 PMID:8444874 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28779239 NCBI chr 7:139,702,066...139,722,132
Ensembl chr 7:139,685,573...139,722,132
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Rhabdomyolysis ClinVar PMID:28779239 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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 PMID:12562902 PMID:18166706 PMID:18337730 PMID:22507243 PMID:26467025 PMID:27415035 PMID:28492532 PMID:28779239 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
OMIM
ClinVar
PMID:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
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:26467025 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
JBrowse link
G Lpin1 lipin 1 ISS OMIM:160010 | OMIM:268200 | OMIM:550500 MouseDO NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
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 11 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS ClinVar PMID:21782149 PMID:26467025 PMID:28492532 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
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:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30120216 PMID:32843486 NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
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
OMIM
PMID:24033266 PMID:25741868 PMID:26805781 PMID:26805782 PMID:27711071 PMID:29369572 PMID:30245509 PMID:32576985 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
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 null ClinVar PMID:10980727 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 null ClinVar
OMIM
PMID:15365880 NCBI chr 1:147,236,480...147,307,988 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        muscular disease 1167
          Rhabdomyolysis 24
            Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
            Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
            Rhabdomyolysis, Cerivastatin-Induced 1
            myoglobinuria + 6
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                Rhabdomyolysis 24
                  Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
                  Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
                  Rhabdomyolysis, Cerivastatin-Induced 1
                  myoglobinuria + 6
paths to the root