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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:Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)
Synonyms:exact_synonym: Brachial Plexopathy;   Brachial Plexus Disease;   Brachial Plexus Disorder;   Brachial Plexus Disorders;   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;   Plexopathies, Brachial;   brachial plexus diseases;   upper brachial plexus neuropathy
 primary_id: MESH:D020516
 alt_id: RDO:0001779
 xref: ICD10CM:G54.0;   NCI:C27194
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
ISS
ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)
ClinVar Annotator: match by term: Hereditary neuralgic amyotrophy
OMIM:162100
ClinVar
MouseDO
PMID:16186812, PMID:17546647, PMID:18492087, PMID:19139049, PMID:19204161, PMID:19451530, PMID:20019224, PMID:22981636, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
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
ClinVar Annotator: match by OMIM:162100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)
ClinVar Annotator: match by term: Hereditary neuralgic amyotrophy
OMIM
ClinVar
CTD
PMID:16186812, PMID:17546647, PMID:18492087, PMID:19139049, PMID:19204161, PMID:19451530, PMID:20019224, PMID:22981636, PMID:25741868, PMID:26467025, PMID:28492532, PMID:16186812 RGD:1599349 NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link

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
          neuropathy 2320
            brachial plexus neuropathy 1
              Brachial Palsy, Familial Congenital 0
              Radiation Induced Brachial Plexopathy 0
              amyotrophic neuralgia 1
              brachial plexus lesion 0
              brachial plexus neuritis + 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.