{"Name":"Angioosteohypotrophic syndrome","DiseaseID__c":"GARD:0018927","id":18927,"encodedName":"angioosteohypotrophic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Angioosteohypotrophic syndrome","Xref_IDs__c":"765750001; C4707561; MEDGEN:1641209; MONDO:0019156","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":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019156","Disease_Description__c":"A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.","GARD_Name__c":"Angioosteohypotrophic syndrome","GARD_Synonym__c":"angio-osteohypotrophic syndrome; phlebectatic osteohypoplastic angiodysplasia; servelle martorell syndrome; servelle-martorell syndrome","Curated_Disease_Description_Source__c":"MONDO:0019156","Curated_Disease_Description__c":"Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:75508","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019156","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:75508","Spanish_Description__c":"Es un síndrome de anomalías vasculares congénitas poco frecuente caracterizado por malformaciones venosas o, en ocasiones, arteriales que conducen a hipertrofia de tejidos blandos e hipoplasia ósea. Por lo general, la extremidad afectada se presenta acortada, muy deformada, dolorosa y edematosa, y se asocia a hipotrofia ósea y muscular. Suele afectar zonas aisladas o múltiples áreas pequeñas de las extremidades, aunque también se ha descrito una afectación más extensa, que incluye la extremidad completa, cintura escapular y axila.","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":"Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.","Curated_Disease_Description_Source__c":"MONDO:0019156","GARD_Synonym__c":"angio-osteohypotrophic syndrome; phlebectatic osteohypoplastic angiodysplasia; servelle martorell syndrome; servelle-martorell syndrome","Name":"Angioosteohypotrophic syndrome","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765750001","Source__c":"C4707561; MONDO:0019156","Xref__c":"765750001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641209","Source__c":"C4707561","Xref__c":"MEDGEN:1641209"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707561","Source__c":"C4707561","Xref__c":"C4707561"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019156","Source__c":"GARD:0018927","Xref__c":"MONDO:0019156"}],"tags":{},"synonyms":["angio-osteohypotrophic syndrome"," phlebectatic osteohypoplastic angiodysplasia"," servelle martorell syndrome"," servelle-martorell syndrome"]}