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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:autonomic neuropathy
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Accession:DOID:11504 term browser browse the term
Synonyms:xref: NCI:C27033
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 ISO ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        autonomic nervous system disease 72
          autonomic neuropathy 1
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
            Horner's syndrome + 0
            diabetic autonomic neuropathy 0
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          autonomic nervous system disease 72
            autonomic neuropathy 1
              BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
              Horner's syndrome + 0
              diabetic autonomic neuropathy 0
paths to the root