{
  "id": 13766,
  "label": "autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012726",
  "properties": {
    "xrefs": [
      "GARD:0010889",
      "ICD9:758.89",
      "MEDGEN:382033",
      "MESH:C567088",
      "OMIM:611773",
      "Orphanet:73229",
      "SCTID:702428000",
      "UMLS:C2673195"
    ],
    "synonyms": [
      "HANAC",
      "HANAC syndrome",
      "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps",
      "hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome",
      "hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26572
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028064"
        ],
        "synonyms": [
          "COL4A1-related disorders"
        ],
        "definition": "The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800461"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6736,
      "label": "cardiovascular disorder"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder"
    }
  ]
}