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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: MIM: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 ClinVar
OMIM
PMID:32500975 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Neurodevelopmental Disorders 6892
        intellectual disability 4378
          DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                Hearing Disorders 827
                  Hearing Loss 822
                    Deafness 373
                      DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
paths to the root