{
  "id": 12353,
  "label": "Axenfeld-Rieger syndrome type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011233",
  "properties": {
    "xrefs": [
      "DOID:0110122",
      "GARD:0009626",
      "ICD9:743.44",
      "MEDGEN:394534",
      "OMIM:602482",
      "SCTID:22155002",
      "UMLS:C2678503"
    ],
    "synonyms": [
      "Axenfeld-Rieger syndrome caused by mutation in FOXC1",
      "Axenfeld-Rieger syndrome type 3",
      "FOXC1 Axenfeld-Rieger syndrome",
      "RIEG3",
      "anterior chamber cleavage syndrome",
      "Axenfeld anomaly",
      "Axenfeld-Rieger anomaly",
      "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss",
      "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss",
      "Axenfeld-Rieger syndrome, type 3",
      "Rieger anomaly",
      "Rieger syndrome, type 3",
      "anterior chamber Cleavage syndrome",
      "anterior segment mesenchymal dysgenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene."
  },
  "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"
    },
    {
      "id": 23975,
      "label": "FOXC1-related anterior segment dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026091"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100235"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19057,
      "label": "Axenfeld-Rieger syndrome"
    },
    {
      "id": 23975,
      "label": "FOXC1-related anterior segment dysgenesis"
    }
  ]
}