{"_id":"MONDO:0012275","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"99-66-1","chemical_name":"Valproic Acid","direct_evidence":"marker/mechanism","mesh_chemical_id":"D014635","pubmed":"20457659","source":"CTD"},"mesh":"C536525"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:4","DOID:225"],"children":[],"def":"\"A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/17090909, url:https\\://www.ncbi.nlm.nih.gov/pubmed/25400349]","descendants":[],"doid":"DOID:0060471","name":"fetal valproate syndrome","parents":["DOID:225"],"synonyms":{"exact":["fetal valproic acid syndrome","foetal valproate syndrome","foetal valproic acid syndrome"]},"xrefs":{"mesh":"C536525","mim":"609442","ncit":"C98930","ordo":"1906","snomedct_us_2025_09_01":"205792006","umls_cui":"C0236026"}},"hpo":{"disease_name":"Fetal valproate spectrum disorder","orphanet":"1906","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000160","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000233","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000286","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000343","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000457","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001539","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002714","orphanet_refs":"orphanet:1906"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003196","orphanet_refs":"orphanet:1906"}]},"mondo":{"ancestors":["MONDO:0019755","MONDO:7770007","MONDO:0700096","MONDO:0021147","MONDO:0000001","MONDO:0016677","MONDO:7770006","MONDO:0002254"],"definition":"Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). [Orphanet:1906]","label":"fetal valproate syndrome","mondo":"MONDO:0012275","parents":["MONDO:0002254","MONDO:0016677"],"synonym":{"exact":["fetal valproate syndrome","fetal valproic acid syndrome"],"related":["FVS","susceptibility to valproate embryopathy","valproic acid embryopathy"]},"xrefs":{"doid":["DOID:0060471"],"icd11":["foundation:1055155432"],"icd9":["759.89"],"meddra":["10016524"],"medgen":["65922"],"mesh":["C536525"],"ncit":["C98930"],"nord":["1141"],"omim":["609442"],"orphanet":["1906"],"sctid":["17231009"],"umls":["C0236026"]}},"original_id":"orphanet:1906","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C536525","preferred":"C536525"},"nci":{"preferred":"C98930"},"snomed":{"non-preferred":["205792006","17231009"],"preferred":["205792006","17231009"]},"umls":"C0236026"}}