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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.


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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 OMIM:258870
ClinVar Annotator: match by term: Ornithine aminotransferase deficiency
ClinVar Annotator: match by term: Gyrate atrophy
ClinVar Annotator: match by term: Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
OMIM
ClinVar
PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 PMID:1618792 PMID:1737786 PMID:1992472 PMID:2220818 PMID:2276738 PMID:2565038 PMID:2793865 PMID:2916581 PMID:3170546 PMID:3339136 PMID:3375240 PMID:3417397 PMID:7668253 PMID:7887415 PMID:8281144 PMID:8430317 PMID:8670789 PMID:9536098 PMID:10617919 PMID:15750329 PMID:17576681 PMID:22182799 PMID:22674428 PMID:23076989 PMID:24082780 PMID:24429551 PMID:25741868 PMID:27978498 PMID:28181551 PMID:28388263 PMID:28468868 PMID:28492532, PMID:3339136 RGD:1600292 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Gyrate atrophy ClinVar PMID:25741868 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    sensory system disease 5424
      eye disease 2682
        Hereditary Eye Diseases 613
          gyrate atrophy 2
            Moloney Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      nervous system disease 11927
        sensory system disease 5424
          eye disease 2682
            uveal disease 228
              choroid disease 56
                gyrate atrophy 2
                  Moloney Syndrome 0
paths to the root