{"_id":"MONDO:0005714","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"50-36-2","chemical_name":"Cocaine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D003042","pubmed":"15280134","source":"CTD"},"mesh":"D013590"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050338","DOID:104","DOID:4","DOID:0080015","DOID:0050117","DOID:4166"],"children":["DOID:0050488","DOID:10039"],"def":"\"A syphilis that results_in a multisystem infection in the fetus via the placenta.\" [url:http\\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html]","descendants":["DOID:0050488","DOID:10039"],"doid":"DOID:9856","name":"congenital syphilis","parents":["DOID:0080015","DOID:4166"],"synonyms":{},"xrefs":{"icd10":"A50","icd9":"090","mesh":"D013590","ncit":"C84649","snomedct_us_2025_09_01":"154380005","umls_cui":"C0039131"}},"hpo":{"disease_name":"Congenital syphilis","orphanet":"499009","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000967","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000979","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001433","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001622","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001789","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001873","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001978","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006267","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0040165","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0040186","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0040188","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000100","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000218","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000365","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000491","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000501","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000518","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000554","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001511","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001733","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001903","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002007","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002014","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002024","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002090","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002716","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006579","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011092","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012229","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012384","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012413","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012424","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012758","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012819","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0025524","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0033782","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100769","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0430028","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000238","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000648","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001250","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001287","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001943","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002982","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0006824","orphanet_refs":"orphanet:499009"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0011120","orphanet_refs":"orphanet:499009"}]},"mondo":{"ancestors":["MONDO:0000001","MONDO:0007000","MONDO:0016511","MONDO:7770007","MONDO:0005976","MONDO:0021147","MONDO:7770010","MONDO:0021681","MONDO:0005550","MONDO:7770008","MONDO:0021839","MONDO:0019755","MONDO:0005039","MONDO:0021678","MONDO:7770006","MONDO:0005113","MONDO:0700096","MONDO:0000314","MONDO:0005323"],"children":["MONDO:0000333","MONDO:0005821"],"definition":"A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. [NCIT:P378]","descendants":["MONDO:0005821","MONDO:0000333"],"has_characteristic":{"mondo":["MONDO:0021140"]},"label":"congenital syphilis","mondo":"MONDO:0005714","parents":["MONDO:0005976","MONDO:0016511"],"synonym":{"exact":["congenital syphilis","mother-to-child transmission of syphilis","MTCT of syphilis"]},"xrefs":{"doid":["DOID:9856"],"efo":["EFO:0007219"],"gard":["0022036"],"icd10cm":["A50"],"icd10who":["A50"],"icd11":["foundation:587996426"],"icd9":["090.9","090"],"medgen":["52622"],"mesh":["D013590"],"ncit":["C84649"],"nord":["1753"],"orphanet":["499009"],"sctid":["35742006"],"umls":["C0039131"]}},"original_id":"orphanet:499009","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":"A50.9","preferred":"A50"},"icd10am":{"non-preferred":"A50.9","preferred":"A50"},"icd10cm":{"non-preferred":"A50.9","preferred":"A50"},"icd9cm":{"non-preferred":"090.9","preferred":["090.9","090"]},"mesh":{"non-preferred":"D013590","preferred":"D013590"},"nci":{"preferred":"C84649"},"snomed":{"non-preferred":["187352005","35742006","154380005","186845009"],"preferred":["35742006","154380005","186845009"]},"umls":"C0039131"}}