{"Name":"Fibular dimelia-diplopodia syndrome","DiseaseID__c":"GARD:0018746","id":18746,"encodedName":"fibular-dimelia-diplopodia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fibular dimelia-diplopodia syndrome","Xref_IDs__c":"720953006; C4303758; MEDGEN:929427; MONDO:0015773; ORPHA:1757","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015773","Disease_Description__c":"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.","GARD_Name__c":"Fibular dimelia-diplopodia syndrome","GARD_Synonym__c":"fibular dimelia diplopodia syndrome; leg duplication mirror foot syndrome; leg duplication-mirror foot syndrome","Curated_Disease_Description_Source__c":"MONDO:0015773","Curated_Disease_Description__c":"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1757","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015773","ORPHANET_ID__c":"ORPHA:1757","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dimelia-diplopia fibular","Spanish_Description_Source__c":"ORPHA:1757","Spanish_Description__c":"Es un síndrome malformativo congénito, que afecta a las extremidades, de origen genético y poco frecuente. Se caracteriza por duplicación del peroné asociada a polidactilia preaxial en espejo del pie. Puede ocurrir como una malformación aislada, o estar asociada a otras anomalías, como dimelia cubital, anomalías faciales y teratoma sacrococcígeo.","Spanish_Disease_Name__c":"síndrome de dimelia-diplopia fibular","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":"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.","Curated_Disease_Description_Source__c":"MONDO:0015773","GARD_Synonym__c":"fibular dimelia diplopodia syndrome; leg duplication mirror foot syndrome; leg duplication-mirror foot syndrome","Name":"Fibular dimelia-diplopodia 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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1757"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303758","Source__c":"C4303758","Xref__c":"C4303758"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929427","Source__c":"C4303758","Xref__c":"MEDGEN:929427"},{"URL__c":"https://www.orpha.net/en/disease/detail/1757","Source__c":"C4303758; MONDO:0015773; ORPHA:1757","Xref__c":"ORPHA:1757"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720953006","Source__c":"C4303758; MONDO:0015773","Xref__c":"720953006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015773","Source__c":"GARD:0018746","Xref__c":"MONDO:0015773"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1757","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009556","HPO_Synonym__c":"Absent shankbone; Absent shinbone; Aplasia of the tibia","HPO_Name__c":"Absent tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1757","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A teratoma arising in the sacro-coccygeal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030736","HPO_Name__c":"Sacrococcygeal teratoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1757","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["fibular dimelia diplopodia syndrome"," leg duplication mirror foot syndrome"," leg duplication-mirror foot syndrome"]}