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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:VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
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Accession:DOID:9003774 term browser browse the term
Definition:This disease is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss.
Synonyms:exact_synonym: VSCN2
 primary_id: OMIM:619465
For additional species annotation, visit the Alliance of Genome Resources.



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VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive OMIM
ClinVar
PMID:33497358 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      auditory system disease 976
        inner ear disease 695
          sensorineural hearing loss 653
            VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1557
            auditory system disease 976
              Hearing Disorders 801
                Hearing Loss 797
                  sensorineural hearing loss 653
                    VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE 1
paths to the root