{
  "id": 19047,
  "label": "aniridia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019172",
  "properties": {
    "xrefs": [
      "DOID:12271",
      "GARD:0027869",
      "ICD10CM:Q13.1",
      "ICD9:743.45",
      "MEDGEN:1941",
      "MESH:D015783",
      "MedDRA:10002532",
      "NANDO:1201001",
      "NCIT:C84563",
      "Orphanet:77",
      "SCTID:69278003",
      "UMLS:C0003076",
      "icd11.foundation:970699895"
    ],
    "synonyms": [
      "aplasia of iris"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 8531,
      "label": "isolated aniridia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19047
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005816",
          "OMIMPS:106210",
          "Orphanet:250923"
        ],
        "synonyms": [
          "nonsyndromic aniridia",
          "aniridia without systemic involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007119"
    },
    {
      "id": 23112,
      "label": "Zazam Sheriff Phillips syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19047
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027966",
          "MEDGEN:419768",
          "MESH:C536723",
          "UMLS:C2931300"
        ],
        "synonyms": [
          "aniridia, ectopia lentis, abnormal upper incisors and intellectual disability",
          "aniridia, ectopia lentis, abnormal upper incisors and mental retardation",
          "aniridia, lens luxation, intellectual disability",
          "aniridia, lens luxation, mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043071"
    }
  ],
  "roots": [
    {
      "id": 4401,
      "label": "iris disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}