{"orpha":248408,"name":"Familial hypodysfibrinogenemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital fibrinogen deficiency","url":"https://raremap.alftech.space/d/ORPHA-248408/","orphanet_url":"https://www.orpha.net/en/disease/detail/248408","names":{"fr":{"name":"Hypodysfibrinogénémie familiale"},"de":{"name":"Hypodysfibrinogenämie, familiäre"},"es":{"name":"Hipodisfibrinogenemia familiar"},"it":{"name":"Ipodisfibrinogenemia familiare"},"nl":{"name":"Familiale hypodysfibrinogenemie"},"pt":{"name":"Hipodisfibrinogenemia familiar"},"pl":{"name":"Hipo- lub dysfibrynogenemia rodzinna"},"cs":{"name":"Familiární hypodysfibrinogenémie"},"uk":{"name":"Сімейна гіподисфібриногенемія"},"zh":{"name":"家族性低纤维蛋白原血症"},"tr":{"name":"Ailesel hipodisfibrinojenemi"}},"xrefs":[{"source":"OMIM","code":"616004","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1152275456"},{"source":"MONDO","code":"0016638","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472803","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":335,"name":"Congenital fibrinogen deficiency","classifications":[156,194]}],"children":[],"genes":[{"symbol":"FGA","name":"fibrinogen alpha chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14615374[PMID]","hgnc":"3661","ensembl":"ENSG00000171560","omim":"134820","loci":["4q31.3"]},{"symbol":"FGB","name":"fibrinogen beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22955321[PMID]","hgnc":"3662","ensembl":"ENSG00000171564","omim":"134830","loci":["4q31.3"]},{"symbol":"FGG","name":"fibrinogen gamma chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15632207[PMID]","hgnc":"3694","ensembl":"ENSG00000171557","omim":"134850","loci":["4q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}