{"_id":"MONDO:0019353","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"116-31-4","chemical_name":"Retinaldehyde","direct_evidence":"marker/mechanism","mesh_chemical_id":"D012172","pubmed":"25331497","source":"CTD"},"mesh":"D000080362","pathway_related_to_disease":[{"inference_gene_symbol":"ABCA4","kegg_pathway_id":"hsa02010","pathway_name":"ABC transporters","source":"CTD"},{"inference_gene_symbol":"ABCA4","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"ABCA4","pathway_name":"Visual phototransduction","react_pathway_id":"R-HSA-2187338","source":"CTD"},{"inference_gene_symbol":"ABCA4","pathway_name":"The canonical retinoid cycle in rods (twilight vision)","react_pathway_id":"R-HSA-2453902","source":"CTD"},{"inference_gene_symbol":"ABCA4","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"ABCA4","pathway_name":"ABC-family proteins mediated transport","react_pathway_id":"R-HSA-382556","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:9799","DOID:0050736","DOID:10871","DOID:0050177","DOID:8466","DOID:630","DOID:4","DOID:2007","DOID:0050155","DOID:4448","DOID:5614","DOID:863","DOID:7","DOID:5679","DOID:0050739"],"children":["DOID:0061238","DOID:0061239","DOID:0061240","DOID:0061241"],"def":"\"An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.\" [url:http\\://en.wikipedia.org/wiki/Stargardt_disease]","descendants":["DOID:0061238","DOID:0061241","DOID:0061239","DOID:0061240"],"doid":"DOID:0050817","name":"Stargardt disease","parents":["DOID:10871"],"synonyms":{"exact":["STARGARDT DISEASE 1"]},"xrefs":{"gard":"181","mesh":"D000080362","mim":"PS248200"}},"hpo":{"disease_name":"Stargardt disease","orphanet":"827","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040280","hpo_id":"HP:0007663","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000493","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000551","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000603","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000608","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000610","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000649","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000662","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007704","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007722","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007814","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0008002","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0030329","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008059","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030500","orphanet_refs":"orphanet:827"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030786","orphanet_refs":"orphanet:827"}]},"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0002022","MONDO:0016420","MONDO:0024458","MONDO:7770008","MONDO:0003004","MONDO:0019118","MONDO:0004580","MONDO:0005071","MONDO:7770006","MONDO:0005328","MONDO:0005283","MONDO:0700096","MONDO:0020242","MONDO:0003847","MONDO:0100545"],"children":["MONDO:0009549","MONDO:0010819","MONDO:0011370","MONDO:0980722"],"definition":"Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. [Orphanet:827]","descendants":["MONDO:0009549","MONDO:0011370","MONDO:0980722","MONDO:0010819"],"excluded_subClassOf":{"mondo":["MONDO:0005150"]},"label":"Stargardt disease","mondo":"MONDO:0019353","parents":["MONDO:0003004","MONDO:0016420"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["fundus flavimaculatus","Stargardt 1"],"related":["juvenile onset macular degeneration","Stargardt macular dystrophy"]},"xrefs":{"doid":["DOID:0050817"],"gard":["0000181"],"icd11":["foundation:1690038580"],"meddra":["10062766"],"medgen":["75734"],"mesh":["D000080362"],"nando":["1200933"],"ncit":["C85078"],"omimps":["248200"],"orphanet":["827"],"sctid":["47673003"],"umls":["C0271093"]}},"original_id":"orphanet:827","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"H35.53"},"mesh":{"non-preferred":"D000080362","preferred":"D000080362"},"nci":{"preferred":"C85078"},"snomed":{"non-preferred":["70099003","193405002","47673003","193407005"],"preferred":["70099003","193405002","193407005"]},"umls":"C0271093"}}