{
  "id": 8531,
  "label": "isolated aniridia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007119",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 19047,
      "label": "aniridia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4401,
        20383
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019172"
    }
  ],
  "children": [
    {
      "id": 15916,
      "label": "aniridia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4546,
        4709,
        5006,
        8531,
        24259,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016200",
          "MEDGEN:138010",
          "MESH:C536372",
          "OMIM:617141",
          "SCTID:253232000",
          "UMLS:C0344543"
        ],
        "synonyms": [
          "AN2",
          "aniridia 2",
          "aniridia type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014937"
    },
    {
      "id": 15917,
      "label": "aniridia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4546,
        4709,
        5006,
        8531,
        24259,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016201",
          "MEDGEN:934662",
          "OMIM:617142",
          "UMLS:C4310695"
        ],
        "synonyms": [
          "AN3",
          "TRIM44 isolated aniridia",
          "aniridia 3",
          "aniridia 3; AN3",
          "aniridia type 3",
          "isolated aniridia caused by mutation in TRIM44"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014938"
    },
    {
      "id": 21459,
      "label": "aniridia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8531
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070532",
          "GARD:0025407",
          "MEDGEN:576337",
          "OMIM:106210",
          "SCTID:253231007",
          "UMLS:C0344542"
        ],
        "synonyms": [
          "aniridia",
          "AN1",
          "aniridia 1",
          "cataract with late-onset corneal dystrophy",
          "aniridia II",
          "aniridia II, formerly",
          "cataract, congenital, with late-onset corneal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024507"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19047,
      "label": "aniridia"
    }
  ]
}