{
  "id": 8743,
  "label": "coloboma, ocular, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007350",
  "properties": {
    "xrefs": [
      "MEDGEN:1859952",
      "OMIM:120200",
      "UMLS:C5886785"
    ],
    "synonyms": [
      "coloboma, ocular",
      "coloboma, ocular, autosomal dominant",
      "coloboma of iris, choroid, and retina",
      "coloboma, Uveoretinal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3690,
      "label": "coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12270",
          "ICD9:743.49",
          "MEDGEN:1046",
          "MESH:D003103",
          "NCIT:C98877",
          "Orphanet:194",
          "SCTID:93390002",
          "UMLS:C0009363"
        ],
        "synonyms": [
          "coloboma of the eye",
          "ocular coloboma",
          "coloboma of macula",
          "congenital ocular coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An abnormality in which a part of a structure in one or both eyes is missing."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001476"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 19816,
      "label": "coloboma of choroid and retina",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016875",
          "MEDGEN:1643994",
          "Orphanet:98942",
          "SCTID:39302008",
          "UMLS:C4708599",
          "icd11.foundation:20223105"
        ],
        "synonyms": [
          "choroidal coloboma",
          "retinal coloboma",
          "retinochoroidal coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020354"
    },
    {
      "id": 19818,
      "label": "coloboma of iris",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001434",
          "HP:0000612",
          "ICD10CM:Q13.0",
          "MEDGEN:116097",
          "MedDRA:10052642",
          "NCIT:C98879",
          "Orphanet:98944",
          "SCTID:9446007",
          "UMLS:C0240063",
          "icd11.foundation:1552972259"
        ],
        "synonyms": [
          "coloboma of iris",
          "coloboma of iris (disease)",
          "coloboma of the iris"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020356"
    }
  ],
  "roots": [
    {
      "id": 3690,
      "label": "coloboma"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}