{
  "id": 19418,
  "label": "Rieger anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019628",
  "properties": {
    "xrefs": [
      "GARD:0016482",
      "MEDGEN:78558",
      "MedDRA:10059198",
      "Orphanet:91483",
      "UMLS:C0265341"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 9021,
      "label": "anterior segment dysgenesis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19418
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080609",
          "GARD:0003026",
          "MEDGEN:330750",
          "OMIM:137600",
          "UMLS:C1842031"
        ],
        "synonyms": [
          "iridogoniodysgenesis syndrome",
          "IRID2",
          "PITX2 iridogoniodysgenesis",
          "anterior segment dysgenesis 4",
          "iridogoniodysgenesis caused by mutation in PITX2",
          "iridogoniodysgenesis, type 2",
          "ASGD4",
          "iridogoniodysgenesis type 2",
          "iris hypoplasia with early-onset glaucoma, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007662"
    }
  ],
  "roots": [
    {
      "id": 12243,
      "label": "iridogoniodysgenesis"
    }
  ]
}