{"Name":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome","DiseaseID__c":"GARD:0004323","id":4323,"encodedName":"phocomelia-ectrodactyly-deafness-sinus-arrhythmia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome","Xref_IDs__c":"C1868390; C537498; MEDGEN:356961; MONDO:0008237; OMIM:171480","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008237","Disease_Description__c":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.","GARD_Name__c":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome","GARD_Synonym__c":"facioauriculoradial dysplasia; phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome; stoll lévy francfort syndrome; stoll-lévy-francfort syndrome","Curated_Disease_Description_Source__c":"MONDO:0008237","Curated_Disease_Description__c":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2878","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008237","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.","Curated_Disease_Description_Source__c":"MONDO:0008237","GARD_Synonym__c":"facioauriculoradial dysplasia; phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome; stoll lévy francfort syndrome; stoll-lévy-francfort syndrome","Name":"Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537498","Source__c":"MONDO:0008237","Xref__c":"C537498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356961","Source__c":"C1868390","Xref__c":"MEDGEN:356961"},{"URL__c":"https://www.omim.org/entry/171480","Source__c":"C1868390; MONDO:0008237","Xref__c":"OMIM:171480"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868390","Source__c":"C1868390","Xref__c":"C1868390"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008237","Source__c":"GARD:0004323","Xref__c":"MONDO:0008237"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715506001","Source__c":"C1868390","Xref__c":"715506001"}],"tags":{},"synonyms":["facioauriculoradial dysplasia"," phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome"," stoll lévy francfort syndrome"," stoll-lévy-francfort syndrome"]}