{
  "id": 11961,
  "label": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010825",
  "properties": {
    "xrefs": [
      "GARD:0002742",
      "MEDGEN:374010",
      "MESH:C563994",
      "OMIM:600123",
      "Orphanet:1352",
      "UMLS:C1838606"
    ],
    "synonyms": [
      "Houlston-Ironton-Temple syndrome",
      "atrioventricular septal defect with blepharophimosis and anal and radial defects"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects."
  },
  "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": 6967,
      "label": "heart disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:114",
          "EFO:0003777",
          "ICD9:429.89",
          "ICD9:429.9",
          "ICD9:V47.2",
          "MEDGEN:5458",
          "MESH:D006331",
          "NCIT:C3079",
          "SCTID:56265001",
          "UMLS:C0018799",
          "icd11.foundation:1512587470"
        ],
        "synonyms": [
          "cardiac disease",
          "disease of heart",
          "disease or disorder of heart",
          "disorder of heart",
          "disorder of heart/pericardium",
          "heart disease",
          "heart disease or disorder",
          "heart disorder",
          "heart trouble",
          "heart/pericardial disease",
          "heart/pericardial disease or disorder",
          "heart/pericardial disorder",
          "heart/pericardial trouble"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the heart and/or pericardium."
      },
      "child_count": 34,
      "reference_id": "MONDO:0005267"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6967,
      "label": "heart disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    }
  ]
}