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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:RETINAL DYSTROPHY WITH LEUKODYSTROPHY
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Accession:DOID:9003874 term browser browse the term
Definition:A peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay
Synonyms:exact_synonym: RDLKD
 primary_id: OMIM:618863
For additional species annotation, visit the Alliance of Genome Resources.


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RETINAL DYSTROPHY WITH LEUKODYSTROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH LEUKODYSTROPHY ClinVar
OMIM
PMID:23105016 NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        retinal disease 786
          RETINAL DYSTROPHY WITH LEUKODYSTROPHY 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            cerebral degeneration 276
              leukodystrophy 116
                RETINAL DYSTROPHY WITH LEUKODYSTROPHY 1
paths to the root