{"_id":"MONDO:0011599","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"67-73-2","chemical_name":"Fluocinolone Acetonide","direct_evidence":"therapeutic","mesh_chemical_id":"D005446","pubmed":"24999722","source":"CTD"},"mesh":"D000080365","pathway_related_to_disease":[{"inference_gene_symbol":"ERAP2","pathway_name":"Adaptive Immune System","react_pathway_id":"R-HSA-1280218","source":"CTD"},{"inference_gene_symbol":"ERAP2","pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":"ERAP2","pathway_name":"Class I MHC mediated antigen processing & presentation","react_pathway_id":"R-HSA-983169","source":"CTD"},{"inference_gene_symbol":"ERAP2","pathway_name":"Antigen Presentation: Folding, assembly and peptide loading of class I MHC","react_pathway_id":"R-HSA-983170","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:12574","DOID:0050155","DOID:12030","DOID:4","DOID:13141","DOID:3480","DOID:863","DOID:5614","DOID:7"],"children":[],"def":"\"A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/11226280, url:https\\://www.ncbi.nlm.nih.gov/pubmed/16263368, url:https\\://www.ncbi.nlm.nih.gov/pubmed/18214792]","descendants":[],"doid":"DOID:0111079","name":"birdshot chorioretinopathy","parents":["DOID:12574"],"synonyms":{"exact":["birdshot chorioretinitis","birdshot retinochoroiditis","birdshot retinochoroidopathy","BSCR","vitiliginous choroiditis"]},"xrefs":{"gard":"5926","mesh":"D000080365","mim":"605808","ordo":"179","snomedct_us_2025_09_01":"231981005","umls_cui":"C1853959"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2022-05-04","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0003596","hpo_name":"Middle age onset","original_disease_id":"OMIM:605808","pmid_refs":"PMID:25667738"},"disease_name":"Birdshot chorioretinopathy","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","omim_refs":"OMIM:605808","original_disease_id":"OMIM:605808"},"omim":"605808","phenotype_related_to_disease":[{"biocuration":{"date":"2022-05-04","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0100832","original_disease_id":"OMIM:605808","pmid_refs":"PMID:25667738"},{"biocuration":{"date":"2015-07-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0012123","original_disease_id":"OMIM:605808","pmid_refs":"PMID:10896989"},{"biocuration":{"date":"2015-07-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0000505","original_disease_id":"OMIM:605808","pmid_refs":"PMID:10896989"},{"biocuration":{"date":"2015-07-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0011531","original_disease_id":"OMIM:605808","pmid_refs":"PMID:10896989"},{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0000532","omim_refs":"OMIM:605808","original_disease_id":"OMIM:605808"},{"biocuration":{"date":"2015-07-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0007722","original_disease_id":"OMIM:605808","pmid_refs":"PMID:18378316"}]},{"disease_name":"Birdshot chorioretinopathy","orphanet":"179","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0007843","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011508","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030329","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030644","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100014","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100533","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100832","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0200056","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000541","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011506","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030530","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000532","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000572","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000610","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007906","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0008046","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011505","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011531","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0030609","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000518","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000543","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000613","orphanet_refs":"orphanet:179"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000622","orphanet_refs":"orphanet:179"}]}],"mondo":{"ancestors":["MONDO:7770007","MONDO:0700096","MONDO:0021166","MONDO:0000001","MONDO:0006918","MONDO:0024458","MONDO:0020283","MONDO:0002661","MONDO:7770006","MONDO:0005328","MONDO:0002022"],"definition":"Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. [Orphanet:179]","excluded_subClassOf":{"mondo":["MONDO:0001280"]},"label":"birdshot chorioretinopathy","mondo":"MONDO:0011599","parents":["MONDO:0006918"],"synonym":{"exact":["birdshot chorioretinitis","birdshot chorioretinopathy","birdshot retinochoroiditis","birdshot retinochoroidopathy","BSCR","vitiliginous choroiditis"],"related":["multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc","multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk"]},"xrefs":{"doid":["DOID:0111079"],"gard":["0005926"],"icd11":["foundation:1954035043"],"medgen":["340098"],"mesh":["C537630"],"omim":["605808"],"orphanet":["179"],"sctid":["231981005"],"umls":["C1853959"]}},"original_id":["MESH:D000080365","orphanet:179"],"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D000080365","preferred":"D000080365"},"snomed":{"non-preferred":"231981005"},"umls":"C1853959"}}