{
  "id": 21326,
  "label": "vascular malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024291",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    }
  ],
  "children": [
    {
      "id": 9030,
      "label": "glomuvenous malformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        21326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7996",
          "GARD:0016728",
          "MEDGEN:374834",
          "MESH:C536827",
          "MedDRA:10018381",
          "NCIT:C5350",
          "OMIM:138000",
          "Orphanet:83454",
          "SCTID:715644000",
          "UMLS:C1841984",
          "icd11.foundation:2095305475"
        ],
        "synonyms": [
          "VMGLOM",
          "Venous malformations with glomus cells",
          "familial glomangioma",
          "glomuvenous malformation",
          "hereditary glomangioma",
          "hereditary multiple glomangiomas",
          "multiple glomus tumors",
          "multiple glomus tumours",
          "GLOMUVENOUS malformations",
          "GVM",
          "glomangiomas, multiple",
          "glomangiomatosis",
          "glomus tumors, multiple"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007672"
    },
    {
      "id": 21323,
      "label": "congenital vascular malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:743837",
          "NCIT:C112117",
          "UMLS:C1961121"
        ],
        "synonyms": [
          "vascular malformation",
          "congenital vascular malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels."
      },
      "child_count": 1,
      "reference_id": "MONDO:0024287"
    },
    {
      "id": 24476,
      "label": "EPHB4-associated vascular malformation spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21326
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700080"
    },
    {
      "id": 26166,
      "label": "splenic venous malformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027421",
          "MEDGEN:1876593",
          "Orphanet:688523",
          "UMLS:C6012357"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975910"
    },
    {
      "id": 26259,
      "label": "cerebral proliferative angiopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:692271"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0979258"
    },
    {
      "id": 26287,
      "label": "fibro-adipose vascular anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699683"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable."
      },
      "child_count": 0,
      "reference_id": "MONDO:0979335"
    }
  ],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    }
  ]
}