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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
 broad_synonym: SLC33A1-RELATED CONDITION
 primary_id: MIM: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 ClinVar Annotator: match by term: Huppke-Brendel syndrome | ClinVar Annotator: match by term: SLC33A1-related condition OMIM
ClinVar
PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:26467025 More... NCBI chr 2:148,415,660...148,438,182 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      Hearing Disorders 848
        Hearing Loss 843
          Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
paths to the root