Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0080946 term browser browse the term
Definition:A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. (DO)
Synonyms:exact_synonym: ACBD5 deficiency;   RDLKD
 primary_id: OMIM:618863
 alt_id: DOID:9003874
 xref: EFO:0010738



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    sensory system disease 6928
      eye disease 3459
        retinal disease 1216
          retinal dystrophy with leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        Neurologic Manifestations 10029
          sensory system disease 6928
            eye disease 3459
              retinal disease 1216
                retinal dystrophy with leukodystrophy 1
paths to the root