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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:DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
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Accession:DOID:9003595 term browser browse the term
Definition:This disease is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area.
Synonyms:exact_synonym: DCIDP
 primary_id: OMIM:619354

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DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy OMIM
ClinVar		 PMID:32500975 NCBI chr 1:17,881,844...17,896,942 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Developmental Disease 13266
      Neurodevelopmental Disorders 6638
        intellectual disability 4201
          DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
Path 2
Term Annotations click to browse term
  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            Otorhinolaryngologic Diseases 1644
              auditory system disease 930
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 363
                      DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
paths to the root