{
  "id": 23975,
  "label": "FOXC1-related anterior segment dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100235",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 12243,
      "label": "iridogoniodysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19321
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050786",
          "GARD:0016484",
          "MEDGEN:861486",
          "Orphanet:98634",
          "UMLS:C4013049",
          "icd11.foundation:2030725523"
        ],
        "synonyms": [
          "IRID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0011119"
    }
  ],
  "children": [
    {
      "id": 12353,
      "label": "Axenfeld-Rieger syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19057,
        23975
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011233"
    },
    {
      "id": 21413,
      "label": "anterior segment dysgenesis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4401,
        18318,
        23975
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080608",
          "GARD:0002978",
          "MEDGEN:1875235",
          "MESH:C535535",
          "OMIM:601631",
          "UMLS:C5975707"
        ],
        "synonyms": [
          "ASGD3",
          "FOXC1 iridogoniodysgenesis",
          "IGDA",
          "IGDA syndrome",
          "IRID1",
          "anterior segment dysgenesis 3",
          "anterior segment dysgenesis 3, multiple subtypes",
          "iridogoniodysgenesis anomaly, autosomal dominant",
          "iridogoniodysgenesis caused by mutation in FOXC1",
          "iridogoniodysgenesis type 1",
          "iridogoniodysgenesis, type 1",
          "glaucoma iridogoniodysgenesia",
          "glaucoma iridogoniodysplasia, familial",
          "iris hypoplasia with glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0024456"
    }
  ],
  "roots": [
    {
      "id": 12243,
      "label": "iridogoniodysgenesis"
    }
  ]
}