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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 neuropathy
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Accession:DOID:3690 term browser browse the term
Definition:A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. (DO)
Synonyms:exact_synonym: Brachial Plexopathy;   Brachial Plexus Disease;   Brachial Plexus Disorder;   Brachial Plexus Neuropathies;   Dejerine Klumpke Palsy;   Erb Duchenne Paralysis;   Erb Palsy;   Erb Paralyses;   Erb Paralysis;   Erb's Palsies;   Erb's Palsy;   Erb-Duchenne Paralyses;   Erbs Palsy;   Klumpke Palsy;   Klumpke Paralysis;   Klumpke's Palsy;   Klumpkes Palsy;   Lower Brachial Plexus Neuropathy;   Lower Brachial Plexus Palsy;   Middle Brachial Plexus Neuropathy;   Paralysis of the Lower Brachial Plexus;   brachial plexopathies;   brachial plexus diseases;   brachial plexus disorders;   upper brachial plexus neuropathy
 primary_id: MESH:D020516
 xref: EFO:1000844;   ICD10CM:G54.0;   NCI:C27194
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
amyotrophic neuralgia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061758 ATAC-STARR-seq lymphoblastoid silent region 9034 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,372,949...77,373,448 JBrowse link
G LOC130061759 ATAC-STARR-seq lymphoblastoid active region 12830 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,376,429...77,376,488 JBrowse link
G LOC130061760 ATAC-STARR-seq lymphoblastoid active region 12831 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,405,174...77,405,223 JBrowse link
G LOC130061761 ATAC-STARR-seq lymphoblastoid silent region 9035 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,406,094...77,406,213 JBrowse link
G MIR4316 microRNA 4316 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,396,984...77,397,054
Ensembl chr17:77,396,984...77,397,054 		JBrowse link
G SEPTIN9 septin 9 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Amyotrophy, hereditary neuralgic
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 chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
brachial plexus neuritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061758 ATAC-STARR-seq lymphoblastoid silent region 9034 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,372,949...77,373,448 JBrowse link
G LOC130061759 ATAC-STARR-seq lymphoblastoid active region 12830 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,376,429...77,376,488 JBrowse link
G LOC130061760 ATAC-STARR-seq lymphoblastoid active region 12831 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,405,174...77,405,223 JBrowse link
G LOC130061761 ATAC-STARR-seq lymphoblastoid silent region 9035 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,406,094...77,406,213 JBrowse link
G MIR4316 microRNA 4316 IAGP ClinVar Annotator: match by term: Amyotrophic neuralgia ClinVar PMID:19139049 NCBI chr17:77,396,984...77,397,054
Ensembl chr17:77,396,984...77,397,054 		JBrowse link
G SEPTIN9 septin 9 IAGP
EXP		 hereditary neuralgic amyotrophy, OMIM:604061
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) | ClinVar Annotator: match by term: SEPTIN9-related condition
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Brachial Plexus Neuropathy | ClinVar Annotator: match by term: SEPTIN9-related condition
ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: SEPTIN9-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:16186812 PMID:17546647 PMID:18492087 PMID:19139049 PMID:19204161 More... RGD:1599349 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SEPTIN9-DT SEPTIN9 divergent transcript IAGP ClinVar Annotator: match by term: SEPTIN9-related condition ClinVar PMID:25741868 NCBI chr17:77,273,784...77,281,897
Ensembl chr17:77,256,954...77,282,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        peripheral nervous system disease 7683
          neuropathy 7130
            brachial plexus neuropathy 7
              Brachial Palsy, Familial Congenital 0
              Radiation Induced Brachial Plexopathy 0
              amyotrophic neuralgia 6
              brachial plexus lesion 0
              brachial plexus neuritis + 7
paths to the root