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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.



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 LOC121815974 NANOG hESC enhancer GRCh37_chr10:126092029-126092572 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1427882 PMID:1612597 PMID:1737786 PMID:3339136 PMID:7887415 More... NCBI chr10:124,403,460...124,404,003 JBrowse link
G NKX1-2 NK1 homeobox 2 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:1737786 PMID:23076989 PMID:28492532 NCBI chr10:124,445,243...124,450,035
Ensembl chr10:124,445,243...124,450,035
JBrowse link
G OAT ornithine aminotransferase IAGP
ISS
EXP
ClinVar Annotator: match by term: Ornithine aminotransferase deficiency
OMIM:258870
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1301936 PMID:1427882 PMID:1487247 PMID:1609808 PMID:1612597 More... RGD:1600292 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976
JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 IAGP ClinVar Annotator: match by term: Ornithine aminotransferase deficiency ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    sensory system disease 24590
      eye disease 8766
        Hereditary Eye Diseases 1683
          gyrate atrophy 4
            Moloney Syndrome 0
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      nervous system disease 58665
        Neurologic Manifestations 35771
          sensory system disease 24590
            eye disease 8766
              uveal disease 545
                choroid disease 75
                  gyrate atrophy 4
                    Moloney Syndrome 0
paths to the root