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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:Slowed Nerve Conduction Velocity, Autosomal Dominant
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Accession:DOID:9002402 term browser browse the term
Synonyms:exact_synonym: SNCV
 primary_id: MESH:C564269;   RDO:0013292
 alt_id: OMIA:001917;   OMIM:608236
For additional species annotation, visit the Alliance of Genome Resources.


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Slowed Nerve Conduction Velocity, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef10 Rho guanine nucleotide exchange factor 10 ISO ClinVar Annotator: match by OMIM:608236
ClinVar Annotator: match by term: Slowed nerve conduction velocity, autosomal dominant
OMIM
ClinVar
PMID:9678704 PMID:14508709 PMID:21719701 PMID:25025039 PMID:25164601 PMID:25741868 PMID:28492532 PMID:29653320 NCBI chr16:79,725,629...79,817,065
Ensembl chr16:79,725,643...79,793,619
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            motor peripheral neuropathy 480
              Slowed Nerve Conduction Velocity, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            Nervous System Heredodegenerative Disorders 1976
              motor peripheral neuropathy 480
                Slowed Nerve Conduction Velocity, Autosomal Dominant 1
paths to the root