{
  "id": 12223,
  "label": "Axenfeld-Rieger syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011097",
  "properties": {
    "xrefs": [
      "DOID:0110121",
      "GARD:0010517",
      "MEDGEN:316937",
      "MESH:C535680",
      "OMIM:601499",
      "UMLS:C1832229"
    ],
    "synonyms": [
      "RIEG2",
      "Axenfeld-Rieger syndrome, type 2",
      "Rieger syndrome, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19057,
      "label": "Axenfeld-Rieger syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16089,
        20691,
        24305
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14686",
          "GARD:0005701",
          "ICD9:743.44",
          "MEDGEN:501192",
          "MESH:C535679",
          "MedDRA:10059255",
          "NCIT:C131001",
          "NORD:1670",
          "OMIMPS:180500",
          "Orphanet:782",
          "SCTID:47507006",
          "UMLS:C3495488"
        ],
        "synonyms": [
          "ARS",
          "Axenfeld syndrome",
          "Axenfeldt-Rieger syndrome",
          "Rieger syndrome",
          "goniodysgenesis hypodontia",
          "iridogoniodysgenesis with somatic anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019187"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19057,
      "label": "Axenfeld-Rieger syndrome"
    }
  ]
}