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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:Congenital Cataracts, Hearing Loss, and Neurodegeneration
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Accession:DOID:9005895 term browser browse the term
Synonyms:exact_synonym: CCHLND
 primary_id: OMIM:614482;   RDO:9000245
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration
OMIM
ClinVar
PMID:15902551, PMID:22243965, PMID:22508683, PMID:31194315 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      auditory system disease 754
        Hearing Disorders 614
          Hearing Loss 609
            Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.