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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:Vagus nerve disease
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Accession:DOID:12491 term browser browse the term
Definition:Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen.
Synonyms:exact_synonym: Cranial Nerve X Diseases;   Pneumogastric Nerve Disorder;   Pneumogastric Nerve Disorders;   Tenth Cranial Nerve Diseases;   Vagus Nerve Disorder;   Vagus Nerve Disorders;   Vagus Nerve Motor Disorder;   Vagus Nerve Sensory Disorder;   Vagus Neuropathies;   Vagus Neuropathy;   Vagus nerve diseases;   disorder of pneumogastric [10th] nerve;   disorder of vagal nerve;   disorder of vagus nerve
 primary_id: MESH:D020421;   RDO:0006815
 xref: ICD10CM:G52.2;   ICD9CM:352.3;   NCI:C27591
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
OMIM
CTD
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
OMIM
CTD
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            cranial nerve disease 686
              Vagus nerve disease 11
                Vagus Nerve Injuries + 0
                Vocal Cord Paralysis + 11
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            cranial nerve disease 686
              glossopharyngeal nerve disease 32
                Vagus nerve disease 11
                  Vagus Nerve Injuries + 0
                  Vocal Cord Paralysis + 11
paths to the root