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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:muscular disease
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Accession:DOID:0080000 term browser browse the term
Definition:A musculoskeletal system disease that affects the muscles. (DO)
Synonyms:exact_synonym: muscle disorder;   muscle disorders;   muscular diseases
 narrow_synonym: SKELETAL MUSCLE DISEASE
 primary_id: MESH:D009135
 xref: EFO:0002970


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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21089
        disease of anatomical entity 18156
          musculoskeletal system disease 8196
            muscular disease 2110
              Axial Myopathy, Late-Onset + 4
              Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
              Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
              Carey-Fineman-Ziter syndrome + 3
              Congenital Myopathy with Neuropathy and Deafness 1
              Congenital Universal Muscular Hypoplasia of Krabbe 0
              Contracture + 139
              Craniomandibular Disorders + 26
              Dimauro Disease 2
              Ehlers-Danlos syndrome kyphoscoliotic type 2 12
              Erythrocyte Amp Deaminase Deficiency 1
              Erythrocyte Lactate Transporter Defect 1
              Fingerprint Body Myopathy 0
              Gamstorp-Wohlfart syndrome 1
              Granulovacuolar Lobular Myopathy with Electrical Myotonia 0
              Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
              Hypertrophia Musculorum Vera 0
              Internal Anal Sphincter Myopathy 0
              Kocher-Debre-Semelaigne Syndrome 0
              Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
              Marinesco-Sjogren syndrome 1
              Medial Tibial Stress Syndrome 0
              Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
              Muscle Cramp + 4
              Muscle Rigidity + 17
              Muscle Spasticity + 117
              Muscle Weakness + 277
              Musculoskeletal Pain + 7
              Myalgia + 4
              Myopathic Carnitine Deficiency 0
              Myopathy with Lactic Acidosis, Hereditary 1
              Myotoxicity 0
              Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
              Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
              Pectoralis Muscle, Absence of 0
              Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
              Proximal Myopathy with Focal Depletion of Mitochondria 0
              Rhabdomyolysis + 27
              Singleton Merten Syndrome + 2
              Skeletal Muscle Injuries 4
              Skeletal Muscle Reperfusion Injury 2
              Tel Hashomer Camptodactyly Syndrome 0
              Treft Sanborn Carey Syndrome 0
              Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
              Uruguay faciocardiomusculoskeletal syndrome 1
              Vacuolar Myopathy 1
              arthrogryposis multiplex congenita + 232
              atrophic muscular disease + 578
              chronic fatigue syndrome 13
              compartment syndrome + 1
              diaphragm disease + 124
              eosinophilia-myalgia syndrome 2
              familial periodic paralysis + 124
              fibromyalgia + 14
              muscle tissue disease + 1261
              myofascial pain syndrome + 3
              myotonic disease + 23
              neutral lipid storage disease + 22
              systemic primary carnitine deficiency disease 13
              tendinitis + 5
              very long chain acyl-CoA dehydrogenase deficiency 87
    Path 2
    Term Annotations click to browse term
      disease 21089
        disease of anatomical entity 18156
          nervous system disease 13996
            peripheral nervous system disease 4059
              neuropathy 3838
                neuromuscular disease 3023
                  muscular disease 2110
                    Axial Myopathy, Late-Onset + 4
                    Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
                    Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 0
                    Carey-Fineman-Ziter syndrome + 3
                    Congenital Myopathy with Neuropathy and Deafness 1
                    Congenital Universal Muscular Hypoplasia of Krabbe 0
                    Contracture + 139
                    Craniomandibular Disorders + 26
                    Dimauro Disease 2
                    Ehlers-Danlos syndrome kyphoscoliotic type 2 12
                    Erythrocyte Amp Deaminase Deficiency 1
                    Erythrocyte Lactate Transporter Defect 1
                    Fingerprint Body Myopathy 0
                    Gamstorp-Wohlfart syndrome 1
                    Granulovacuolar Lobular Myopathy with Electrical Myotonia 0
                    Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
                    Hypertrophia Musculorum Vera 0
                    Internal Anal Sphincter Myopathy 0
                    Kocher-Debre-Semelaigne Syndrome 0
                    Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
                    Marinesco-Sjogren syndrome 1
                    Medial Tibial Stress Syndrome 0
                    Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
                    Muscle Cramp + 4
                    Muscle Rigidity + 17
                    Muscle Spasticity + 117
                    Muscle Weakness + 277
                    Musculoskeletal Pain + 7
                    Myalgia + 4
                    Myopathic Carnitine Deficiency 0
                    Myopathy with Lactic Acidosis, Hereditary 1
                    Myotoxicity 0
                    Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 0
                    Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
                    Pectoralis Muscle, Absence of 0
                    Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
                    Proximal Myopathy with Focal Depletion of Mitochondria 0
                    Rhabdomyolysis + 27
                    Singleton Merten Syndrome + 2
                    Skeletal Muscle Injuries 4
                    Skeletal Muscle Reperfusion Injury 2
                    Tel Hashomer Camptodactyly Syndrome 0
                    Treft Sanborn Carey Syndrome 0
                    Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 0
                    Uruguay faciocardiomusculoskeletal syndrome 1
                    Vacuolar Myopathy 1
                    arthrogryposis multiplex congenita + 232
                    atrophic muscular disease + 578
                    chronic fatigue syndrome 13
                    compartment syndrome + 1
                    diaphragm disease + 124
                    eosinophilia-myalgia syndrome 2
                    familial periodic paralysis + 124
                    fibromyalgia + 14
                    muscle tissue disease + 1261
                    myofascial pain syndrome + 3
                    myotonic disease + 23
                    neutral lipid storage disease + 22
                    systemic primary carnitine deficiency disease 13
                    tendinitis + 5
                    very long chain acyl-CoA dehydrogenase deficiency 87
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