{"Name":"Otopalatodigital syndrome","DiseaseID__c":"GARD:0007293","id":7293,"encodedName":"otopalatodigital-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Otopalatodigital syndrome","Xref_IDs__c":"767130007; C5779873; MEDGEN:1843451; MONDO:0019027","USA_Estimate__c":null,"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":null,"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:0019027","Disease_Description__c":"A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.","GARD_Name__c":"Otopalatodigital syndrome","GARD_Synonym__c":"oto-palatal-digital syndrome; oto-palato-digital syndrome","Curated_Disease_Description_Source__c":"MONDO:0019027","Curated_Disease_Description__c":"A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019027","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":"A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.","Curated_Disease_Description_Source__c":"MONDO:0019027","GARD_Synonym__c":"oto-palatal-digital syndrome; oto-palato-digital syndrome","Name":"Otopalatodigital syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779873","Source__c":"C5779873","Xref__c":"C5779873"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=767130007","Source__c":"MONDO:0019027","Xref__c":"767130007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843451","Source__c":"C5779873","Xref__c":"MEDGEN:1843451"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019027","Source__c":"GARD:0007293","Xref__c":"MONDO:0019027"}],"tags":{},"synonyms":["oto-palatal-digital syndrome"," oto-palato-digital syndrome"]}