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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:gyrate atrophy
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Accession:DOID:1415 term browser browse the term
Definition:Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
Synonyms:exact_synonym: GACR;   Gyrate Atrophy of Choroid and Retina;   Gyrate Atrophy of Choroid and Retina with Pyridoxine-Responsive Ornithinemia;   Gyrate Atrophy of the Choroid and Retina;   Gyrate atrophy of the choroid and/or retina;   HOGA;   Hyperornithinemia with Gyrate Atrophy of Choroid and Retina;   OAT Deficiency;   OKT Deficiency;   Ornithine Aminotransferase Deficiency;   Ornithine Delta Aminotransferase Deficiency;   Ornithine Keto Acid Aminotransferase Deficiency;   Ornithine Ketoacid Aminotransferase Deficiency;   Ornithinemia with Gyrate Atrophy;   gyrate atrophy of the retina
 primary_id: MESH:D015799;   RDO:0001120
 alt_id: OMIM:258870
 xref: GARD:6556;   NCI:C84744
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
gyrate atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency OMIM
ClinVar
RGD
PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More... RGD:1600292 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:25741868 NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          gyrate atrophy 2
            Moloney Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            uveal disease 234
              choroid disease 58
                gyrate atrophy 2
                  Moloney Syndrome 0
paths to the root