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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:brachial plexus neuritis
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Accession:DOID:3689 term browser browse the term
Definition:A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. (DO)
Synonyms:exact_synonym: Amyotrophic Neuralgia;   Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus;   Brachial Neuralgia;   Brachial Neuritis;   Brachial Plexus Neuritides;   Cervico Brachial Neuralgia;   Cervico-Brachial Neuralgias;   Cervicobrachial Neuralgia;   Cervicobrachial Neuralgias;   Familial Brachial Plexus Neuritis;   HEREDITARY NEURALGIC AMYOTROPHY (HNA);   HNA;   Hereditary Brachial Plexus Neuropathy;   Hereditary Neuralgic Amyotrophies;   Hereditary Neuralgic Amyotrophy;   Heredofamilial Neuritis with Brachial Plexus Predilection;   NAPB;   Parsonage Aldren Turner Syndrome;   Parsonage Turner Syndrome;   amyotrophic neuralgias;   brachial neuralgias;   brachial neuritides;   neuritis with brachial predilection;   shoulder girdle neuropathies;   shoulder girdle neuropathy
 primary_id: MESH:D020968
 alt_id: OMIM:162100
 xref: EFO:1000843;   ICD10CM:G54.5;   NCI:C84600
For additional species annotation, visit the Alliance of Genome Resources.


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brachial plexus neuritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Septin9 septin 9 ISO hereditary neuralgic amyotrophy, OMIM:604061
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Amyotrophy, hereditary neuralgic | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)		 OMIM
CTD
ClinVar
RGD		 PMID:16186812 PMID:17546647 PMID:18492087 PMID:19139049 PMID:19204161 More... RGD:1599349 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
    syndrome 10886
      brachial plexus neuritis 1
        Acute Brachial Neuritis 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        peripheral nervous system disease 4120
          neuropathy 3904
            neuritis 197
              brachial plexus neuritis 1
                Acute Brachial Neuritis 0
paths to the root