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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 ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA)
ClinVar Annotator: match by term: Amyotrophy, hereditary neuralgic
ClinVar Annotator: match by term: Hereditary neuralgic amyotrophy
ClinVar PMID:16186812 PMID:17546647 PMID:18492087 PMID:19139049 PMID:19204161 PMID:19451530 PMID:20019224 PMID:22981636 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:4,254,771...4,347,526
Ensembl chr12:4,254,775...4,405,628
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 OMIM NCBI chr12:4,254,771...4,347,526
Ensembl chr12:4,254,775...4,405,628
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    disease of anatomical entity 12220
      nervous system disease 9962
        peripheral nervous system disease 2310
          neuropathy 2152
            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
paths to the root