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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 syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA;   Continuous Myokymia;   Isaac Syndrome;   Isaacs Mertens Syndrome;   Isaacs Pseudomyotonia Syndrome;   Isaacs Syndrome;   Isaacs-Mertens Syndromes;   Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis;   NMAN;   Neuromyotonia;   Pseudomyotonia;   acquired neuromyotonia;   autosomal recessive neuromyotonia and axonal neuropathy;   continuous muscle activity syndrome;   continuous myokymias;   myokymia, myotonia and muscle wasting;   pseudomyotonia syndrome of Isaacs;   quantal squander;   syndrome of continuous muscle activity
 primary_id: MESH:D020386
 alt_id: OMIM:137200
 xref: GARD:12353;   NCI:C202012


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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 term: Autosomal recessive axonal neuropathy with neuromyotonia | ClinVar Annotator: match by term: MYOKYMIA, MYOTONIA, AND MUSCLE WASTING OMIM
ClinVar		 PMID:1851512 PMID:9536098 PMID:16199547 PMID:16835243 PMID:17576681 More... NCBI chr 2:133,469,765...133,475,813
Ensembl chr 2:133,467,151...133,475,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Gamstorp-Wohlfart syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        peripheral nervous system disease 3993
          neuropathy 3802
            neuromuscular disease 2980
              muscular disease 2091
                Gamstorp-Wohlfart syndrome 1
paths to the root