{ "id": 7065, "label": "vascular disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005385", "properties": { "xrefs": [ "DOID:178", "EFO:0004264", "ICD10CM:I00-I99", "ICD10CM:I70-I79", "ICD9:442.9", "MEDGEN:22621", "MESH:D014652", "NANDO:2100294", "NCIT:C35117", "SCTID:27550009", "UMLS:C0042373" ], "synonyms": [ "disease of vasculature", "disease or disorder of vasculature", "disorder of vasculature", "vascular disorder", "vasculature disease", "vasculature disease or disorder", "vasculopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." }, "isLeaf": false, "isRoot": false, "child_count": 60, "parents": [ { "id": 6736, "label": "cardiovascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1287", "EFO:0000319", "ICD10CM:I00-I99", "ICD9:390-459", "ICD9:420-429", "ICD9:423", "ICD9:423.8", "ICD9:424", "ICD9:429", "ICD9:429.2", "ICD9:429.7", "ICD9:429.8", "ICD9:429.81", "ICD9:429.89", "ICD9:459.89", "ICD9:459.9", "MEDGEN:2848", "MESH:D002318", "NANDO:1100005", "NCIT:C2931", "SCTID:49601007", "UMLS:C0007222", "icd11.foundation:424293435", "icd11.foundation:426429380" ], "synonyms": [ "cardiovascular disease", "cardiovascular disease (CVD)", "cardiovascular disorder", "cardiovascular system disease", "cardiovascular system disease or disorder", "disease of cardiovascular system", "disease or disorder of cardiovascular system", "disorder of cardiovascular system", "circulatory system disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the cardiovascular system." }, "child_count": 6, "reference_id": "MONDO:0004995" } ], "children": [ { "id": 2933, "label": "arterial disorder", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050828", "ICD9:447.8", "ICD9:447.9", "MEDGEN:208875", "NCIT:C35317", "SCTID:359557001", "UMLS:C0852949" ], "synonyms": [ "arterial disease", "arterial disorder", "arteriopathy", "artery disease", "artery disease or disorder", "disease of artery", "disease or disorder of artery", "disorder of artery" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An impairment of the structure or function of the blood vessels which carry blood away from the heart." }, "child_count": 30, "reference_id": "MONDO:0000473" }, { "id": 3090, "label": "ischemic colitis", "isLeaf": true, "isRoot": false, "parents": [ 6986, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060181", "MEDGEN:57930", "MESH:D017091", "SCTID:30588004", "UMLS:C0162529" ], "synonyms": [ "colonic ischemia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature." }, "child_count": 0, "reference_id": "MONDO:0000701" }, { "id": 3150, "label": "thrombotic disease", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060903", "ICD9:453.9", "MEDGEN:21160", "MESH:D013927", "NCIT:C26891", "SCTID:439127006", "UMLS:C0040053" ], "synonyms": [ "Clots, blood", "Thromboses", "blood Clots", "blood clot", "clot, blood", "thrombosis", "thrombotic disorder", "thrombus" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury." }, "child_count": 8, "reference_id": "MONDO:0000831" }, { "id": 3777, "label": "capillary disorder", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1271", "ICD9:448", "ICD9:448.9", "MEDGEN:510074", "SCTID:58729003", "UMLS:C0155765" ], "synonyms": [ "capillary disease", "capillary disease or disorder", "disease of capillary", "disease or disorder of capillary", "disorder of capillary" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving a capillary." }, "child_count": 4, "reference_id": "MONDO:0001574" }, { "id": 4429, "label": "angiodysplasia", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2494", "ICD9:537.83", "MEDGEN:88403", "MESH:D016888", "SCTID:90858003", "UMLS:C0085411" ], "synonyms": [ "angiodysplasia of stomach and duodenum with haemorrhage", "angiodysplasia of stomach and duodenum with hemorrhage" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." }, "child_count": 2, "reference_id": "MONDO:0002322" }, { "id": 4495, "label": "hepatic vascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 6878, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:272", "ICD9:573.8", "MEDGEN:140779", "NCIT:C35442", "SCTID:235878005", "UMLS:C0400923" ], "synonyms": [ "hepatic vascular disorder", "liver vascular disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma." }, "child_count": 22, "reference_id": "MONDO:0002405" }, { "id": 5128, "label": "vascular hemostatic disease", "isLeaf": false, "isRoot": false, "parents": [ 4360, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:484", "GARD:0023389", "MEDGEN:154721", "MESH:D020141", "SCTID:21112004", "UMLS:C0600502" ], "synonyms": [ "disorder, vascular hemostatic", "disorders, vascular hemostatic", "hemostatic disorder", "hemostatic disorder, vascular", "hemostatic disorders, vascular", "vascular hemostatic disorder", "vascular hemostatic disorders" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." }, "child_count": 4, "reference_id": "MONDO:0003159" }, { "id": 6420, "label": "vein disorder", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:866", "ICD9:453", "MEDGEN:115992", "NCIT:C35279", "SCTID:90507008", "UMLS:C0235522" ], "synonyms": [ "disease of vein", "disease or disorder of vein", "disorder of vein", "vein disease", "vein disease or disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease involving the vein." }, "child_count": 13, "reference_id": "MONDO:0004634" }, { "id": 6784, "label": "ischemic disease", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:326", "MEDGEN:5899", "MESH:D007511", "NCIT:C34738", "SCTID:52674009", "UMLS:C0022116" ], "synonyms": [ "ischemia" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." }, "child_count": 6, "reference_id": "MONDO:0005053" }, { "id": 6988, "label": "peripheral vascular disease", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:341", "EFO:0003875", "ICD9:443.81", "MEDGEN:38790", "MESH:D016491", "NCIT:C35136", "UMLS:C0085096", "icd11.foundation:426429380" ], "synonyms": [ "disease, peripheral vascular", "peripheral vascular disorder", "vascular disease, peripheral" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Any disorder affecting blood flow through the veins or arteries outside of the heart." }, "child_count": 11, "reference_id": "MONDO:0005294" }, { "id": 7077, "label": "venous thromboembolism", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004286", "MEDGEN:348285", "MESH:D054556", "NCIT:C99537", "UMLS:C1861172", "icd11.foundation:1197943614" ], "synonyms": [ "venous thromboembolism" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." }, "child_count": 0, "reference_id": "MONDO:0005399" }, { "id": 7202, "label": "ocular vascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7065 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0005753", "MEDGEN:182689", "NCIT:C35664", "UMLS:C0948522" ], "synonyms": [ "disease of vasculature of eye", "disease or disorder of vasculature of eye", "disorder of vasculature of eye", "ocular vascular disorder", "vasculature of eye disease", "vasculature of eye disease or disorder" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disorder that is caused by pathologic changes in the ocular vasculature." }, "child_count": 6, "reference_id": "MONDO:0005552" }, { "id": 7216, "label": "cholesterol embolism", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1461", "EFO:0005801", "ICD10CM:I75", "ICD9:445", "ICD9:459.89", "MEDGEN:57437", "MESH:D017700", "SCTID:307406004", "UMLS:C0149649" ], "synonyms": [ "atheroembolism", "purple toe syndrome", "trash foot", "warfarin blue toe syndrome" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset." }, "child_count": 2, "reference_id": "MONDO:0005568" }, { "id": 7571, "label": "thoracic outlet syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3103", "EFO:0007507", "MEDGEN:21158", "MESH:D013901", "MedDRA:10048627", "NCIT:C85188", "NORD:1766", "Orphanet:97330", "SCTID:128210009", "UMLS:C0039984", "icd11.foundation:909280105" ], "synonyms": [ "TOS", "thoracic outlet compression syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip." }, "child_count": 6, "reference_id": "MONDO:0005979" }, { "id": 8778, "label": "idiopathic spontaneous coronary artery dissection", "isLeaf": true, "isRoot": false, "parents": [ 7065, 24405 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010822", "MEDGEN:377701", "MESH:C565153", "OMIM:122455", "Orphanet:458718", "UMLS:C1852540" ], "synonyms": [ "idiopathic SCAD", "coronary artery dissection, spontaneous" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007385" }, { "id": 8822, "label": "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13945", "GARD:0024558", "ICD9:323.9", "ICD9:447.8", "MEDGEN:199687", "NANDO:1200545", "OMIMPS:125310", "UMLS:C0751587" ], "synonyms": [ "CADASIL", "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy", "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy", "Casil", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy", "dementia, hereditary multi-infarct type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0007432" }, { "id": 9200, "label": "angioosteohypertrophic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 7065, 19480, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2926", "GARD:0003122", "MEDGEN:9646", "MESH:D007715", "MedDRA:10051452", "NANDO:1200884", "NANDO:2201030", "NCIT:C84801", "NORD:1337", "OMIM:149000", "Orphanet:2346", "Orphanet:90308", "SCTID:721105004", "UMLS:C0022739", "icd11.foundation:1561120378" ], "synonyms": [ "Klippel Trenaunay syndrome", "Klippel-Trenaunay Syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenaunay-Weber syndrome", "Klippel-Trenaunay-Weber syndrome, Isolated cases", "Klippel-Trénaunay syndrome", "Klippel-Trénaunay-Weber syndrome", "Weber-Klippel-Trenaunay", "angioosteohypertrophy syndrome", "haemangiectatic hypertrophy", "KTS", "Ktw syndrome", "angio-osteohypertrophy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb." }, "child_count": 0, "reference_id": "MONDO:0007864" }, { "id": 9257, "label": "Bannayan-Riley-Ruvalcaba syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 16087, 16103, 17900, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050657", "GARD:0005887", "ICD10CM:E71.440", "ICD9:759.6", "MEDGEN:78554", "NCIT:C3939", "NORD:1684", "OMIM:153480", "Orphanet:109", "SCTID:21984008", "UMLS:C0265326", "icd11.foundation:357383447" ], "synonyms": [ "BRRS", "Bannayan syndrome", "Bannayan-Riley-Ruvalcaba syndrome", "Bannayan-Zonana syndrome", "Myhre-Riley-Smith syndrome", "RILEY-SMITH syndrome", "Ruvalcaba-MYHRE-SMITH syndrome", "macrocephaly with multiple lipomas and hemangiomas", "BZS", "RMSS", "Riley-Smith syndrome", "Ruvalcaba -Myhre-Smith syndrome", "Ruvalcaba-Myhre-Smith syndrome", "macrocephaly multiple lipomas and hemangiomata", "macrocephaly pseudopapilledema and multiple hemangiomas", "macrocephaly, multiple lipomas, and hemangiomata", "macrocephaly, pseudopapilledema, and multiple hemangiomata" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." }, "child_count": 0, "reference_id": "MONDO:0007924" }, { "id": 10086, "label": "arterial tortuosity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050645", "GARD:0000774", "ICD10CM:Q87.82", "MEDGEN:347942", "MESH:C565942", "NORD:803", "OMIM:208050", "Orphanet:3342", "SCTID:458432002", "UMLS:C1859726", "icd11.foundation:371764699" ], "synonyms": [ "arterial tortuosity syndrome", "ATS", "arterial tortuosity" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." }, "child_count": 0, "reference_id": "MONDO:0008818" }, { "id": 10160, "label": "hereditary arterial and articular multiple calcification syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111582", "GARD:0010762", "MEDGEN:347132", "MESH:C565891", "OMIM:211800", "Orphanet:289601", "SCTID:718602007", "UMLS:C1859372" ], "synonyms": [ "CALJA", "calcification of joints and arteries", "ACDC", "arterial calcification and distal joint calcification", "arterial calcification due to CD73 deficiency", "arterial calcification due to deficiency of Cd73" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints." }, "child_count": 0, "reference_id": "MONDO:0008895" }, { "id": 11139, "label": "pulmonary venoocclusive disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6971, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5453", "GARD:0010153", "ICD9:416.8", "MEDGEN:18769", "MESH:D011668", "MedDRA:10037458", "NANDO:1200427", "NCIT:C85039", "OMIMPS:265450", "Orphanet:31837", "SCTID:89420002", "UMLS:C0034091", "icd11.foundation:1368993024" ], "synonyms": [ "PVOD", "pulmonary capillary hemangiomatosis", "pulmonary veno-occlusive disease", "obstructive disease of the pulmonary veins" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." }, "child_count": 6, "reference_id": "MONDO:0009937" }, { "id": 11978, "label": "multiple cutaneous and mucosal venous malformations", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050792", "GARD:0016600", "MEDGEN:325026", "MESH:C563977", "OMIM:600195", "Orphanet:2451", "SCTID:699301008", "UMLS:C1838437" ], "synonyms": [ "VMCM", "cutaneous and mucosal venous malformation", "VENOUS malformations, multiple cutaneous and mucosal", "Vmcm1", "mucocutaneous venous malformations" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa." }, "child_count": 0, "reference_id": "MONDO:0010842" }, { "id": 12023, "label": "arterial dissection-lentiginosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016577", "MEDGEN:325345", "MESH:C563937", "OMIM:600459", "Orphanet:1682", "UMLS:C1838122" ], "synonyms": [ "arterial dissection with lentiginosis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)." }, "child_count": 0, "reference_id": "MONDO:0010889" }, { "id": 12908, "label": "patent ductus arteriosus", "isLeaf": false, "isRoot": false, "parents": [ 7065, 7116, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13832", "GARD:0024824", "ICD10CM:Q25.0", "ICD9:747.0", "MEDGEN:4415", "MESH:D004374", "NANDO:2100084", "NANDO:2200264", "NCIT:C84492", "OMIMPS:607411", "Orphanet:466729", "Orphanet:706", "SCTID:83330001", "UMLS:C0013274", "icd11.foundation:1262462321" ], "synonyms": [ "PDA", "patent ductus arteriosus", "patent ductus botalli", "persistent patency of the arterial duct", "patency of the ductus arteriosus", "patent ductus arteriosus familial (type)" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure." }, "child_count": 12, "reference_id": "MONDO:0011827" }, { "id": 14483, "label": "multisystemic smooth muscle dysfunction syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7065, 20415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012811", "MEDGEN:462551", "OMIM:613834", "Orphanet:404463", "UMLS:C3151201" ], "synonyms": [ "ACTA2-related smooth muscle dysfunction syndrome", "multisystemic smooth muscle dysfunction syndrome", "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy", "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease." }, "child_count": 6, "reference_id": "MONDO:0013452" }, { "id": 15407, "label": "STING-associated vasculopathy with onset in infancy", "isLeaf": true, "isRoot": false, "parents": [ 7065, 20399, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111457", "GARD:0012357", "ICD9:279.8", "MEDGEN:863159", "OMIM:615934", "Orphanet:425120", "SCTID:711164003", "UMLS:C4014722" ], "synonyms": [ "SAVI", "STING-associated vasculopathy, infantile-onset" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." }, "child_count": 0, "reference_id": "MONDO:0014405" }, { "id": 16809, "label": "capillary malformation", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:90955", "Orphanet:211247", "SCTID:234118009", "UMLS:C0340803" ], "synonyms": [ "congenital malformation of capillary", "rare capillary malformation" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0016231" }, { "id": 16979, "label": "Ehlers-Danlos syndrome, vascular-like type", "isLeaf": true, "isRoot": false, "parents": [ 7065, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025076", "Orphanet:230845", "SCTID:720862007", "icd11.foundation:240424885" ], "synonyms": [ "EDS, vascular-like type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." }, "child_count": 0, "reference_id": "MONDO:0016469" }, { "id": 17555, "label": "calciphylaxis", "isLeaf": false, "isRoot": false, "parents": [ 4258, 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4734", "GARD:0005980", "ICD9:275.49", "MEDGEN:2404", "MESH:D002115", "MedDRA:10051714", "NCIT:C84607", "Orphanet:280062", "SCTID:237900002", "UMLS:C0006666", "icd11.foundation:574291789" ], "synonyms": [ "idiopathic calciphylaxis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition." }, "child_count": 6, "reference_id": "MONDO:0017215" }, { "id": 17629, "label": "neonatal Marfan syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 9277 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021128", "MEDGEN:864491", "Orphanet:284979", "SCTID:763839005", "UMLS:C4016054", "icd11.foundation:1102890898" ], "synonyms": [ "neonatal MFS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated." }, "child_count": 0, "reference_id": "MONDO:0017309" }, { "id": 17633, "label": "Ehlers-Danlos syndrome, vascular type", "isLeaf": false, "isRoot": false, "parents": [ 7065, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002082", "MEDGEN:82790", "NANDO:1200648", "NANDO:2201258", "NCIT:C125699", "Orphanet:286", "SCTID:17025000", "UMLS:C0268338", "icd11.foundation:1202686415" ], "synonyms": [ "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", "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)", "vEDS", "vascular EDS", "vascular Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "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." }, "child_count": 4, "reference_id": "MONDO:0017314" }, { "id": 18039, "label": "lethal arteriopathy syndrome due to fibulin-4 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017432", "MEDGEN:1673111", "Orphanet:314718", "UMLS:C5190604" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017818" }, { "id": 18756, "label": "congenital portosystemic shunt", "isLeaf": false, "isRoot": false, "parents": [ 7065, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021979", "MEDGEN:712860", "Orphanet:480531", "UMLS:C1290495", "icd11.foundation:682625970" ], "synonyms": [ "congenital portosystemic venous fistula" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors." }, "child_count": 2, "reference_id": "MONDO:0018811" }, { "id": 18802, "label": "arterial calcification of infancy", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050644", "GARD:0008380", "MEDGEN:395331", "MESH:C537440", "NORD:2001", "OMIMPS:208000", "Orphanet:51608", "UMLS:C1859727", "icd11.foundation:934461548" ], "synonyms": [ "Generalized Arterial Calcification of Infancy", "generalised arterial calcification of infancy", "generalized arterial calcification of infancy", "idiopathic infantile arterial calcification", "idiopathic obliterative arteriopathy", "infantile arteriosclerosis", "occlusive infantile arteriopathy", "IIAC", "generalised arterial calcification in infancy", "generalized arterial calcification in infancy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries." }, "child_count": 4, "reference_id": "MONDO:0018870" }, { "id": 18813, "label": "vasculitis", "isLeaf": false, "isRoot": false, "parents": [ 7065, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:865", "EFO:0006803", "GARD:0018844", "MEDGEN:12054", "MESH:D014657", "MedDRA:10036023", "MedDRA:10047115", "NCIT:C26912", "Orphanet:52759", "SCTID:31996006", "UMLS:C0042384", "Wikipedia:Vasculitis", "icd11.foundation:572581721" ], "synonyms": [ "systemic vasculitis", "angiitis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease." }, "child_count": 36, "reference_id": "MONDO:0018882" }, { "id": 18876, "label": "Loeys-Dietz syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 7065, 17630 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050466", "GARD:0010788", "ICD9:759.89", "MEDGEN:395827", "MESH:D055947", "NANDO:2200969", "NCIT:C75006", "NORD:91173", "OMIMPS:609192", "Orphanet:60030", "SCTID:446263001", "UMLS:C2697932" ], "synonyms": [ "Loeys-Dietz syndrome", "aortic aneurysm syndrome due to TGF-beta receptors anomalies", "aortic aneurysm syndrome, Loeys-Dietz type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum." }, "child_count": 24, "reference_id": "MONDO:0018954" }, { "id": 19142, "label": "skin vascular disease", "isLeaf": false, "isRoot": false, "parents": [ 6820, 7065 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9540", "ICD9:709.1", "MEDGEN:102473", "MESH:D017445", "MedDRA:10062171", "NCIT:C35254", "Orphanet:79379", "SCTID:11263005", "UMLS:C0162819" ], "synonyms": [ "skin vascular disorder", "superficial vasculature disease", "vascular disease of the skin", "vascular skin disease", "vasculature skin disease", "disorder of blood vessels affecting skin", "vascular disorder of skin", "vascular disorders of skin" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disease that involves the superficial vasculature." }, "child_count": 40, "reference_id": "MONDO:0019293" }, { "id": 19154, "label": "lymphatic malformation", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7065, 19049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050580", "GARD:0013057", "ICD10CM:Q82.0", "ICD9:757.0", "MEDGEN:140763", "OMIMPS:153100", "SCTID:254199006", "UMLS:C0398368" ], "synonyms": [ "hereditary lymphedema", "lymphedema, hereditary" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." }, "child_count": 84, "reference_id": "MONDO:0019313" }, { "id": 19415, "label": "familial thoracic aortic aneurysm and aortic dissection", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002249", "ICD9:447.9", "MEDGEN:1644766", "OMIMPS:607086", "Orphanet:91387", "SCTID:45894003", "SCTID:764965000", "UMLS:C4707243" ], "synonyms": [ "Erdheim disease", "FTAAD", "familial TAAD", "familial aortic dissection", "familial non-syndromic TAAD", "familial thoracic aortic aneurysm and aortic dissection", "nonsyndromic HTAD", "nonsyndromic familial thoracic aortic aneurysm and dissection", "nonsyndromic heritable thoracic aortic disease", "ns-FTAAD", "nsHTAD" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." }, "child_count": 18, "reference_id": "MONDO:0019625" }, { "id": 19565, "label": "congenital anomaly of superior vena cava", "isLeaf": false, "isRoot": false, "parents": [ 7065, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019275", "ICD9:747.49", "MEDGEN:539589", "Orphanet:95498", "SCTID:70195006", "UMLS:C0265928", "icd11.foundation:1459500132" ], "synonyms": [ "congenital anomaly of superior caval vein", "congenital anomaly of the SVC" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 14, "reference_id": "MONDO:0019829" }, { "id": 19566, "label": "congenital anomaly of the inferior vena cava", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019276", "ICD9:747.49", "MEDGEN:539592", "Orphanet:95499", "SCTID:81577001", "UMLS:C0265932", "icd11.foundation:1266881625" ], "synonyms": [ "congenital anomaly of the IVC", "congenital anomaly of the inferior caval vein" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0019830" }, { "id": 19569, "label": "congenital anomaly of hepatic vein", "isLeaf": true, "isRoot": false, "parents": [ 7065, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019282", "MEDGEN:756237", "Orphanet:95507", "UMLS:C3163825" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0019836" }, { "id": 19703, "label": "congenital renal artery stenosis", "isLeaf": true, "isRoot": false, "parents": [ 6948, 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019381", "ICD10CM:Q27.1", "MEDGEN:635552", "Orphanet:97598", "SCTID:271432005", "UMLS:C0495523", "icd11.foundation:856359002" ], "synonyms": [ "congenital RAS", "congenital renovascular hypoplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A narrowing of renal arteries that is present since birth." }, "child_count": 0, "reference_id": "MONDO:0019993" }, { "id": 19715, "label": "internal carotid agenesis", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003012", "MEDGEN:928576", "Orphanet:981", "SCTID:722004001", "UMLS:C4302907", "icd11.foundation:368564890" ], "synonyms": [ "agenesis of the internal carotid artery", "internal carotid artery agenesis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography." }, "child_count": 0, "reference_id": "MONDO:0020048" }, { "id": 19905, "label": "coronary sinus stenosis", "isLeaf": true, "isRoot": false, "parents": [ 7065, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019658", "MEDGEN:576420", "Orphanet:99117", "UMLS:C0344684" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020446" }, { "id": 19906, "label": "coronary sinus atresia", "isLeaf": true, "isRoot": false, "parents": [ 7065, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019659", "MEDGEN:576419", "Orphanet:99118", "UMLS:C0344683" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020447" }, { "id": 20082, "label": "vascular occlusion disorder", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "synonyms": [ "vascular occlusion" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot." }, "child_count": 2, "reference_id": "MONDO:0020672" }, { "id": 20084, "label": "vascular insufficiency disorder", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:534461", "SCTID:86341008", "UMLS:C0232352" ], "synonyms": [ "vascular insufficiency" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 9, "reference_id": "MONDO:0020674" }, { "id": 20321, "label": "blood vessel neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7065, 21330 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1651181", "NCIT:C7387", "SCTID:126736007", "UMLS:C4722524" ], "synonyms": [ "blood vessel neoplasm", "blood vessel neoplasm (disease)", "blood vessel tumor", "blood vessel tumour", "neoplasm of blood vessel", "tumor of blood vessel", "tumour of blood vessel" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A neoplasm arising from arteries or veins." }, "child_count": 10, "reference_id": "MONDO:0021080" }, { "id": 20710, "label": "vascular ectasia", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:8080", "NCIT:C45481", "UMLS:C0002959" ], "synonyms": [ "vascular ectasia" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0021658" }, { "id": 20834, "label": "vascular disorder of penis", "isLeaf": true, "isRoot": false, "parents": [ 4183, 7065 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:607.82", "MEDGEN:102349", "NCIT:C35218", "SCTID:198029003", "UMLS:C0156307" ], "synonyms": [ "penile vascular disorder", "Penile Vascular Disorder", "Penile vascular disorder", "Penis vascular disorder", "Vascular disorder of penis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." }, "child_count": 0, "reference_id": "MONDO:0022293" }, { "id": 21154, "label": "fibrocartilaginous embolism", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:419466", "MESH:C537927", "UMLS:C2931666" ], "synonyms": [ "embolism, fibrocartilaginous" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy." }, "child_count": 0, "reference_id": "MONDO:0023152" }, { "id": 21326, "label": "vascular malformation", "isLeaf": false, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0006888", "MEDGEN:56387", "MESH:D054079", "NANDO:2100295", "UMLS:C0158570" ], "synonyms": [ "vascular malformation", "malformation, vascular", "malformations, vascular" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A non-neoplastic disorder that is the result of defects of vascular morphogenesis." }, "child_count": 6, "reference_id": "MONDO:0024291" }, { "id": 22949, "label": "lymphatic vessel neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7065, 7447, 21330 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1857625", "NCIT:C3723", "UMLS:C2103272" ], "synonyms": [ "lymph vessel neoplasm", "lymph vessel tumor", "lymph vessel tumour", "lymphatic vessel neoplasm", "lymphatic vessel tumor", "lymphatic vessel tumour", "neoplasm of lymph vessel", "neoplasm of lymphatic vessel", "neoplasm of the lymph vessel", "neoplasm of the lymphatic vessel", "tumor of lymph vessel", "tumor of lymphatic vessel", "tumor of the lymph vessel", "tumor of the lymphatic vessel", "tumour of lymph vessel", "tumour of lymphatic vessel", "tumour of the lymph vessel", "tumour of the lymphatic vessel" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A benign or malignant neoplasm arising from the lymphatic vessels." }, "child_count": 3, "reference_id": "MONDO:0036870" }, { "id": 23165, "label": "neurovascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:857738", "NCIT:C117007", "UMLS:C3898144" ], "synonyms": [ "disease of nervous system vasculature", "nervous system disorder of vasculature", "neurovascular disorder", "vasculature nervous system disorder" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disorder of the nervous system related to a vascular etiology." }, "child_count": 58, "reference_id": "MONDO:0043218" }, { "id": 23184, "label": "superior vena cava syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:52576", "MESH:D013479", "NCIT:C3396", "SCTID:63363004", "UMLS:C0038833" ], "synonyms": [ "superior vena cava syndrome", "SVC obstruction", "SVC syndrome", "SVCS", "superior vena cava obstruction", "superior vena cava thrombosis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache." }, "child_count": 0, "reference_id": "MONDO:0043287" }, { "id": 23462, "label": "coronary microvascular disorder", "isLeaf": true, "isRoot": false, "parents": [ 6967, 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:104771", "NCIT:C84478", "UMLS:C0206064", "icd11.foundation:1752457658" ], "synonyms": [ "CMD", "coronary microvascular disease", "heart disease of microvascular endothelium", "microvascular endothelium heart disease" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom." }, "child_count": 0, "reference_id": "MONDO:0044875" }, { "id": 25678, "label": "segmental arterial mediolysis", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026833", "MEDGEN:1387331", "Orphanet:645350", "UMLS:C4517096", "icd11.foundation:1160127418" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957452" }, { "id": 25883, "label": "bleeding disorder, vascular-type", "isLeaf": true, "isRoot": false, "parents": [ 7065 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1853829", "OMIM:620715", "UMLS:C5935577" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958229" }, { "id": 26086, "label": "arterial tortuosity-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065, 7171, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641" ], "synonyms": [ "EMILIN1-related arterial tortuosity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood." }, "child_count": 0, "reference_id": "MONDO:0971179" } ], "roots": [ { "id": 6736, "label": "cardiovascular disorder" } ] }