{"_id":"MONDO:0019100","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"2180-92-9","chemical_name":"Bupivacaine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D002045","pubmed":"14582781","source":"CTD"},{"cas_registry_number":"83-43-2","chemical_name":"Methylprednisolone","direct_evidence":"therapeutic","mesh_chemical_id":"D008775","pubmed":"18509235","source":"CTD"}],"mesh":"D009471","pathway_related_to_disease":[{"inference_gene_symbol":"GFAP","kegg_pathway_id":"hsa04630","pathway_name":"Jak-STAT signaling pathway","source":"CTD"},{"inference_gene_symbol":"AQP4","kegg_pathway_id":"hsa04962","pathway_name":"Vasopressin-regulated water reabsorption","source":"CTD"},{"inference_gene_symbol":"AQP4","kegg_pathway_id":"hsa04976","pathway_name":"Bile secretion","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Signaling by ERBB4","react_pathway_id":"R-HSA-1236394","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Nuclear signaling by ERBB4","react_pathway_id":"R-HSA-1251985","source":"CTD"},{"inference_gene_symbol":"GFAP","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"AQP4","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"AQP4","pathway_name":"Vasopressin regulates renal water homeostasis via Aquaporins","react_pathway_id":"R-HSA-432040","source":"CTD"},{"inference_gene_symbol":"AQP4","pathway_name":"Passive transport by Aquaporins","react_pathway_id":"R-HSA-432047","source":"CTD"},{"inference_gene_symbol":"AQP4","pathway_name":"Aquaporin-mediated transport","react_pathway_id":"R-HSA-445717","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0060004","DOID:331","DOID:438","DOID:4","DOID:574","DOID:0060033","DOID:870","DOID:319","DOID:5656","DOID:2914","DOID:863","DOID:417","DOID:7","DOID:1891"],"children":[],"def":"\"A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).\" [url:http\\://en.wikipedia.org/wiki/Neuromyelitis_optica, url:http\\://rarediseases.org/rare-diseases/neuromyelitis-optica/]","descendants":[],"doid":"DOID:8869","name":"neuromyelitis optica","parents":["DOID:0060004","DOID:0060033","DOID:1891","DOID:319"],"synonyms":{"exact":["Devic's disease","Devic's syndrome"]},"xrefs":{"efo":"0004256","gard":"6267","icd10":"G36.0","icd9":"341.0","mesh":"D009471","ncit":"C84934","snomedct_us_2025_09_01":"25044007","umls_cui":"C0027873"}},"hpo":{"disease_name":"Neuromyelitis optica spectrum disorder","orphanet":"71211","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000009","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000572","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002529","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003474","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0010550","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011096","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012486","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0030057","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100653","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0200026","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012443","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0033342","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002018","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002878","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012229","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0032492","orphanet_refs":"orphanet:71211"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100247","orphanet_refs":"orphanet:71211"}]},"mondo":{"ancestors":["MONDO:0700096","MONDO:0000001","MONDO:0005071","MONDO:0024458","MONDO:7770006","MONDO:0044685","MONDO:0005328","MONDO:0002022"],"children":["MONDO:0035663","MONDO:0035664","MONDO:0035665"],"definition":"A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. [Orphanet:71211]","descendants":["MONDO:0035663","MONDO:0035665","MONDO:0035664"],"excluded_subClassOf":{"mondo":["MONDO:0005301"]},"label":"neuromyelitis optica","mondo":"MONDO:0019100","parents":["MONDO:0005071","MONDO:0044685"],"synonym":{"exact":["Devic disease","Neuromyelitis Optica Spectrum Disorder"],"related":["Devic syndrome","Devic's neuromyelitis optica","NMO"]},"xrefs":{"doid":["DOID:8869"],"efo":["EFO:0004256"],"gard":["0006267"],"icd10cm":["G36.0"],"icd11":["foundation:744293382"],"icd9":["341.0"],"meddra":["10029322"],"medgen":["45063"],"mesh":["D009471"],"nando":["1200027","2201322"],"ncit":["C84934"],"nord":["1505"],"orphanet":["71211"],"sctid":["25044007"],"umls":["C0027873"]}},"original_id":["orphanet:71211","UMLS:C0027873","UMLS:C0221059"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":"G36.0"},"icd10am":{"non-preferred":"G36.0"},"icd10cm":{"non-preferred":"G36.0"},"icd9cm":{"preferred":"341.0"},"mesh":{"non-preferred":"D009471","preferred":"D009471"},"nci":{"non-preferred":"C84934","preferred":"C84934"},"snomed":{"non-preferred":"25044007","preferred":"25044007"},"umls":"C0027873"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","snomed":{"non-preferred":"25044007","preferred":"25044007"},"umls":"C0221059"}]}