{
  "id": 21413,
  "label": "anterior segment dysgenesis 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024456",
  "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)"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4401,
      "label": "iris disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4712
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:240",
          "MEDGEN:9556",
          "MESH:D007499",
          "NCIT:C34737",
          "SCTID:85478004",
          "UMLS:C0022078"
        ],
        "synonyms": [
          "disease of iris",
          "disease or disorder of iris",
          "disorder of iris",
          "iris disease",
          "iris disease or disorder",
          "iris disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the iris."
      },
      "child_count": 8,
      "reference_id": "MONDO:0002289"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002486",
          "MEDGEN:777991",
          "MESH:C580055",
          "Orphanet:359",
          "UMLS:C3711383"
        ],
        "synonyms": [
          "hereditary glaucoma (disease)",
          "glaucoma, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018174"
    },
    {
      "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": 4401,
      "label": "iris disorder"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma"
    },
    {
      "id": 23975,
      "label": "FOXC1-related anterior segment dysgenesis"
    }
  ]
}