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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:Gamstorp-Wohlfart syndrome
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Accession:DOID:0050526 term browser browse the term
Definition:A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA;   Continuous Myokymia;   Continuous Myokymias;   Isaac Syndrome;   Isaacs Mertens Syndrome;   Isaacs Pseudomyotonia Syndrome;   Isaacs Syndrome;   Isaacs-Mertens Syndromes;   Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis;   NMAN;   Neuromyotonia;   Pseudomyotonia;   Pseudomyotonia Syndrome of Isaacs;   acquired neuromyotonia;   autosomal recessive neuromyotonia and axonal neuropathy;   continuous muscle activity syndrome;   myokymia, myotonia and muscle wasting;   quantal squander;   syndrome of continuous muscle activity
 primary_id: MESH:D020386
 alt_id: OMIM:137200;   RDO:0007405
 xref: GARD:12353
For additional species annotation, visit the Alliance of Genome Resources.


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Gamstorp-Wohlfart syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by OMIM:137200
ClinVar Annotator: match by term: Neuromyotonia and axonal neuropathy, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive axonal neuropathy with neuromyotonia
OMIM
ClinVar
PMID:1851512, PMID:22961002, PMID:25342199, PMID:25741868, PMID:26182879, PMID:27549087, PMID:28492532, PMID:29787766, PMID:30311386 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Gamstorp-Wohlfart syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Gamstorp-Wohlfart syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.