{"Name":"Melhem-Fahl syndrome","DiseaseID__c":"GARD:0003462","id":3462,"encodedName":"melhem-fahl-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Melhem-Fahl syndrome","Xref_IDs__c":"732263008; C2931453; C537238; MEDGEN:444059; MONDO:0016622; ORPHA:2482","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016622","Disease_Description__c":"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.","GARD_Name__c":"Melhem-Fahl syndrome","GARD_Synonym__c":"melhem fahl syndrome","Curated_Disease_Description_Source__c":"MONDO:0016622","Curated_Disease_Description__c":"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2482","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016622","ORPHANET_ID__c":"ORPHA:2482","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de melhem-fahl","Spanish_Description_Source__c":"ORPHA:2482","Spanish_Description__c":"El síndrome de Melhem-Fahl fue descrito en dos hermanos nacidos de padres consanguíneos en 1985 y se caracterizaba por la presencia de 15 pares de vértebras dorsales y costillas. No se han documentado otros casos desde el informe inicial.","Spanish_Disease_Name__c":"síndrome de melhem-fahl","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.","Curated_Disease_Description_Source__c":"MONDO:0016622","GARD_Synonym__c":"melhem fahl syndrome","Name":"Melhem-Fahl syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2482"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444059","Source__c":"C2931453","Xref__c":"MEDGEN:444059"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537238","Source__c":"MONDO:0016622","Xref__c":"C537238"},{"URL__c":"https://www.orpha.net/en/disease/detail/2482","Source__c":"C2931453; MONDO:0016622; ORPHA:2482","Xref__c":"ORPHA:2482"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732263008","Source__c":"C2931453; MONDO:0016622","Xref__c":"732263008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931453","Source__c":"C2931453","Xref__c":"C2931453"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016622","Source__c":"GARD:0003462","Xref__c":"MONDO:0016622"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["melhem fahl syndrome"]}