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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:neuromuscular disease
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Accession:DOID:440 term browser browse the term
Definition:A neuropathy that affect the nerves that control the voluntary muscles. (DO)
Synonyms:exact_synonym: NEUROMUSCULAR DISORDER;   neuromuscular diseases
 narrow_synonym: Amyotonia Congenita;   Benign Fasciculation-Cramp Syndrome;   Benign Fasciculation-Cramp Syndromes;   Cramp Fasciculation Syndrome;   Cramp-Fasciculation Syndromes;   Foley Denny Brown Syndrome;   Oppenheim Disease;   Oppenheim's Disease;   Oppenheims Disease
 primary_id: MESH:D009468
 xref: EFO:1001902;   ICD10CM:G70.9;   ICD9CM:358;   NCI:C189005
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 21142
        disease of anatomical entity 18190
          musculoskeletal system disease 8236
            neuromuscular disease 3048
              Charcot-Marie-Tooth disease + 659
              Congenital Hypomyelinating Neuropathy + 6
              Cyclic Vomiting Syndrome with Neuromuscular Disease 0
              Cyprus Facial Neuromusculoskeletal Syndrome 0
              GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
              GSD IV, Neuromuscular Form, Childhood 1
              GSD IV, Neuromuscular Form, Congenital 1
              GSD IV, Neuromuscular Form, Fatal Perinatal 1
              NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
              Neuromuscular Oculoauditory Syndrome 1
              chronic fatigue syndrome 13
              locked-in syndrome 0
              motor neuron disease + 530
              muscular disease + 2136
              neuromuscular junction disease + 221
              sorbitol dehydrogenase deficiency with peripheral neuropathy 1
    Path 2
    Term Annotations click to browse term
      disease 21142
        disease of anatomical entity 18190
          nervous system disease 14019
            peripheral nervous system disease 4087
              neuropathy 3872
                neuromuscular disease 3048
                  Charcot-Marie-Tooth disease + 659
                  Congenital Hypomyelinating Neuropathy + 6
                  Cyclic Vomiting Syndrome with Neuromuscular Disease 0
                  Cyprus Facial Neuromusculoskeletal Syndrome 0
                  GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
                  GSD IV, Neuromuscular Form, Childhood 1
                  GSD IV, Neuromuscular Form, Congenital 1
                  GSD IV, Neuromuscular Form, Fatal Perinatal 1
                  NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES 1
                  Neuromuscular Oculoauditory Syndrome 1
                  chronic fatigue syndrome 13
                  locked-in syndrome 0
                  motor neuron disease + 530
                  muscular disease + 2136
                  neuromuscular junction disease + 221
                  sorbitol dehydrogenase deficiency with peripheral neuropathy 1
    paths to the root