{"limit":20,"offset":0,"total":1,"items":[{"id":"MONDO:0017314","category":"biolink:Disease","name":"Ehlers-Danlos syndrome, vascular type","description":"Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.","xref":["GARD:0002082","ICD10CM:Q79.63","MEDGEN:82790","NANDO:1200648","NANDO:2201258","NCIT:C125699","Orphanet:286","SCTID:17025000","UMLS:C0268338","icd11.foundation:1202686415"],"synonym":["EDS IV","EDS IV (formerly)","EDS type 4","EDS type 4 (formerly)","EDS4 (formerly)","Ehlers Danlos syndrome, arterial type","Ehlers Danlos syndrome, ecchymotic type","Ehlers Danlos syndrome, sack-Barabas type","Ehlers-Danlos syndrome type 4","Ehlers-Danlos syndrome type 4 (formerly)","Ehlers-Danlos syndrome type IV","Ehlers-Danlos syndrome type IV (formerly)","Ehlers-Danlos syndrome, type IV","Ehlers-Danlos syndrome, vascular type","sack-Barabas syndrome","vEDS","vascular EDS","vascular Ehlers-Danlos syndrome"],"exact_synonym":["EDS IV","EDS type 4","Ehlers-Danlos syndrome type 4","Ehlers-Danlos syndrome type IV","Ehlers-Danlos syndrome, type IV","Ehlers-Danlos syndrome, vascular type","sack-Barabas syndrome","vEDS","vascular EDS"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["EDS IV (formerly)","EDS type 4 (formerly)","EDS4 (formerly)","Ehlers Danlos syndrome, arterial type","Ehlers Danlos syndrome, ecchymotic type","Ehlers Danlos syndrome, sack-Barabas type","Ehlers-Danlos syndrome type 4 (formerly)","Ehlers-Danlos syndrome type IV (formerly)","vascular Ehlers-Danlos syndrome"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","gard_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":24.993608,"matched_field":"exact_synonym","match_type":"exact","highlighting":{"name":["Ehlers-Danlos <em>syndrome</em>, vascular type"],"description":["Ehlers-Danlos <em>syndrome</em> type IV, also known as the vascular type of Ehlers-Danlos <em>syndrome</em> (EDS), is"],"synonym":["Ehlers Danlos <em>syndrome</em>, <em>sack</em>-<em>Barabas</em> type"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":1}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}