{"Name":"Orofaciodigital syndrome type 12","DiseaseID__c":"GARD:0010693","id":10693,"encodedName":"orofaciodigital-syndrome-type-12","IsDeleted":false,"Disease_Name_Full__c":"Orofaciodigital syndrome type 12","Xref_IDs__c":"763834000; C2932679; C548034; MEDGEN:420948; MONDO:0015421","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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015421","Disease_Description__c":"Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.","GARD_Name__c":"Orofaciodigital syndrome type 12","GARD_Synonym__c":"moran-barroso syndrome; ofd12; oral-facial-digital syndrome type 12","Curated_Disease_Description_Source__c":"MONDO:0015421","Curated_Disease_Description__c":"Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:141327","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015421","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":"Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.","Curated_Disease_Description_Source__c":"MONDO:0015421","GARD_Synonym__c":"moran-barroso syndrome; ofd12; oral-facial-digital syndrome type 12","Name":"Orofaciodigital syndrome type 12","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C548034","Source__c":"MONDO:0015421","Xref__c":"C548034"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=420948","Source__c":"C2932679","Xref__c":"MEDGEN:420948"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763834000","Source__c":"MONDO:0015421","Xref__c":"763834000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2932679","Source__c":"C2932679","Xref__c":"C2932679"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015421","Source__c":"GARD:0010693","Xref__c":"MONDO:0015421"}],"tags":{},"synonyms":["moran-barroso syndrome"," ofd12"," oral-facial-digital syndrome type 12"]}