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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 Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:3490596 PMID:21675912 PMID:22047571 PMID:23001465 PMID:23485543 PMID:24518185 PMID:25194629 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:27394135 PMID:27798933 PMID:28470390 PMID:28492532 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle cramps ClinVar PMID:25741868 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
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 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:25228067 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        muscular disease 1186
          Muscle Cramp 4
            Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
            Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 2
            Muscle Cramps, Familial 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                Muscle Cramp 4
                  Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
                  Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 2
                  Muscle Cramps, Familial 0
paths to the root