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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:amyotrophic neuralgia
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Accession:DOID:10383 term browser browse the term
Definition:A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: amyotrophic neuralgias;   hereditary neuralgic amyotrophies;   hereditary neuralgic amyotrophy;   hereditary neuralgic amyotrophy (HNA);   neuralgic amyotrophies;   neuralgic amyotrophy
 xref: ICD9CM:353.5
For additional species annotation, visit the Alliance of Genome Resources.


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amyotrophic neuralgia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Amyotrophy, hereditary neuralgic | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) ClinVar PMID:16186812 PMID:17546647 PMID:18492087 PMID:19139049 PMID:19204161 More... NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          Neuralgia 58
            amyotrophic neuralgia 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                amyotrophic neuralgia 1
paths to the root