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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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Your selection has 3084 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

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    • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 16106
        disease of anatomical entity 15662
          musculoskeletal system disease 7968
            neuromuscular disease 3084
              Charcot-Marie-Tooth disease + 658
              Congenital Hypomyelinating Neuropathy + 7
              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 + 532
              muscular disease + 2173
              neuromuscular junction disease + 221
    Path 2
    Term Annotations click to browse term
      disease 16106
        disease of anatomical entity 15662
          nervous system disease 13530
            peripheral nervous system disease 4129
              neuropathy 3927
                neuromuscular disease 3084
                  Charcot-Marie-Tooth disease + 658
                  Congenital Hypomyelinating Neuropathy + 7
                  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 + 532
                  muscular disease + 2173
                  neuromuscular junction disease + 221
    paths to the root