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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:Muscle Cramp
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Accession:DOID:9000373 term browser browse the term
Definition:A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
Synonyms:exact_synonym: Cramp;   Cramps;   Limb Cramp;   Limb Cramps;   Muscle Cramps;   Muscular Cramp;   Muscular Cramps
 primary_id: MESH:D009120;   RDO:0001403
For additional species annotation, visit the Alliance of Genome Resources.



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Muscle Cramp term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar Annotator: match by OMIM:611773
OMIM
ClinVar
PMID:17030722 PMID:18077766 PMID:18160688 PMID:19477666 PMID:20385946 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 NCBI chr15:2,593,473...2,634,019
Ensembl chr15:2,593,578...2,633,503
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        muscular disease 1289
          Muscle Cramp 5
            Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
            Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 4
            Muscle Cramps, Familial 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                Muscle Cramp 5
                  Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
                  Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 4
                  Muscle Cramps, Familial 0
paths to the root