{
  "id": 19819,
  "label": "coloboma of eyelid",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020357",
  "properties": {
    "xrefs": [
      "GARD:0019605",
      "MEDGEN:141737",
      "NCIT:C98878",
      "Orphanet:98946",
      "SCTID:95202004",
      "UMLS:C0521573",
      "icd11.foundation:684436925"
    ],
    "synonyms": [
      "coloboma of the eyelid"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing."
  },
  "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"
    }
  ],
  "children": [
    {
      "id": 16317,
      "label": "coloboma of superior eyelid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263,
        19819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019977",
          "MEDGEN:350283",
          "Orphanet:155884",
          "SCTID:763132003",
          "UMLS:C1863872"
        ],
        "synonyms": [
          "superior palpebral coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015480"
    },
    {
      "id": 16318,
      "label": "coloboma of inferior eyelid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263,
        19819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019978",
          "MEDGEN:373417",
          "Orphanet:155889",
          "SCTID:763133008",
          "UMLS:C1837826"
        ],
        "synonyms": [
          "Inferior palpebral coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015481"
    }
  ],
  "roots": [
    {
      "id": 3690,
      "label": "coloboma"
    }
  ]
}