{
  "id": 16318,
  "label": "coloboma of inferior eyelid",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015481",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16263,
      "label": "facial cleft",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507,
        21213
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019964",
          "MEDGEN:146898",
          "NCIT:C124510",
          "Orphanet:141229",
          "SCTID:92821006",
          "UMLS:C0685787",
          "icd11.foundation:11389088"
        ],
        "synonyms": [
          "cleft face",
          "craniofacial cleft",
          "prosoposchisis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences."
      },
      "child_count": 18,
      "reference_id": "MONDO:0015411"
    },
    {
      "id": 19819,
      "label": "coloboma of eyelid",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3690
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020357"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16263,
      "label": "facial cleft"
    },
    {
      "id": 19819,
      "label": "coloboma of eyelid"
    }
  ]
}