{
  "id": 8744,
  "label": "coloboma of macula",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007351",
  "properties": {
    "xrefs": [
      "GARD:0001436",
      "MEDGEN:342305",
      "OMIM:120300",
      "Orphanet:98945",
      "UMLS:C1852767",
      "icd11.foundation:366058642"
    ],
    "synonyms": [
      "coloboma of macula",
      "agenesis of macula",
      "hereditary macular coloboma (subtype)",
      "macular coloboma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3690,
      "label": "coloboma"
    },
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}