{"orpha":563609,"name":"Isolated anencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Isolated anencephaly/exencephaly","url":"https://raremap.alftech.space/d/ORPHA-563609/","orphanet_url":"https://www.orpha.net/en/disease/detail/563609","names":{"fr":{"name":"Anencéphalie isolée"},"de":{"name":"Anenzephalie, isolierte"},"es":{"name":"Anencefalia aislada"},"it":{"name":"Anencefalia isolata"},"nl":{"name":"Geïsoleerde anencefalie"},"pt":{"name":"Anencefalia isolada"},"pl":{"name":"Izolowane bezmózgowie"},"cs":{"name":"Izolovaná anencefalie"},"uk":{"name":"Ізольована аненцефалія"},"zh":{"name":"孤立性无脑畸形"},"tr":{"name":"İzole anensefali"}},"xrefs":[{"source":"ICD-10","code":"Q00.0","qualifier":"NTBT","icd_relation":"specific","validated":false},{"source":"ICD-11","code":"LA00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"452325024"},{"source":"MONDO","code":"0035401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002320","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1048,"name":"Isolated anencephaly/exencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MTHFR","name":"methylenetetrahydrofolate reductase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31424828[PMID]","hgnc":"7436","ensembl":"ENSG00000177000","omim":"607093","loci":["1p36.22"]},{"symbol":"VANGL2","name":"VANGL planar cell polarity protein 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"31424828[PMID]","hgnc":"15511","ensembl":"ENSG00000162738","omim":"600533","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Antenatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-03","source":"12210471[PMID]_7294060[PMID]_15800854[PMID]","terms":[{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030244","label":"Maternal fever in pregnancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010516","label":"Thymus hyperplasia","frequency":"Occasional (29-5%)","criteria":null}]}}