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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: ACETYL-CoA TRANSPORTER DEFICIENCY;   CCHLND;   HPBDS;   Huppke-Brendel syndrome
 primary_id: OMIM:614482


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Huppke-Brendel syndrome		 OMIM
CTD
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      Hearing Disorders 821
        Hearing Loss 816
          Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
paths to the root