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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:Small Fiber Neuropathy
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Accession:DOID:9002272 term browser browse the term
Definition:Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS).
Synonyms:exact_synonym: Small Fibre Neuropathies;   Small Fibre Neuropathy;   small fiber neuropathies;   small nerve fiber neuropathy
 primary_id: MESH:D000071075
 xref: NCI:C125389
For additional species annotation, visit the Alliance of Genome Resources.


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Small Fiber Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO associated with sarcoidosis;DNA:polymorphisms:cds:HLA-DQB1*0602 (human) RGD PMID:16053028 RGD:5147648 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Small fiber neuropathy ClinVar PMID:18414213, PMID:19763161, PMID:21698661, PMID:22035805, PMID:22539570, PMID:22826602, PMID:23280954, PMID:23895530, PMID:24088041, PMID:24817410, PMID:24820863, PMID:25250524, PMID:25316021, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26633545, PMID:27843123, PMID:28073787, PMID:28492532, PMID:29176367, PMID:29358611 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          Small Fiber Neuropathy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.