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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: MIM:258870
 xref: GARD:6556;   NCI:C84744
For additional species annotation, visit the Alliance of Genome Resources.


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gyrate atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx1-2 NK1 homeobox 2 ISO ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1737786 PMID:23076989 PMID:28492532 NCBI chr 1:187,386,370...187,391,252
Ensembl chr 1:187,388,711...187,391,149 		JBrowse link
G Oat ornithine aminotransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:258870
ClinVar Annotator: match by term: Ornithine aminotransferase deficiency		 OMIM
CTD
MouseDO
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:16199547 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 9:24,696,959...25,196,404
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 19134
    sensory system disease 7373
      eye disease 3721
        Hereditary Eye Diseases 1130
          gyrate atrophy 3
            Moloney Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              uveal disease 242
                choroid disease 63
                  gyrate atrophy 3
                    Moloney Syndrome 0
paths to the root