{
  "id": 11733,
  "label": "X-linked corneal dermoid",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010579",
  "properties": {
    "xrefs": [
      "GARD:0002580",
      "MEDGEN:375481",
      "MESH:C535376",
      "OMIM:304730",
      "Orphanet:1661",
      "SCTID:715426004",
      "UMLS:C1844671",
      "icd11.foundation:118076382"
    ],
    "synonyms": [
      "Guízar Vázquez-Luengas-muñoz syndrome",
      "corneal dystrophy epithelial-short stature syndrome",
      "CND",
      "Guizar-Vazquez Luengas-Munoz syndrome",
      "bilateral corneal dermoids",
      "corneal dermoids and short stature",
      "dermoids of cornea"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3211,
      "label": "corneal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10124",
          "EFO:0009464",
          "ICD9:371.30",
          "ICD9:371.89",
          "ICD9:371.9",
          "MEDGEN:3617",
          "MESH:D003316",
          "NCIT:C26731",
          "SCTID:15250008",
          "UMLS:C0010034",
          "icd11.foundation:980864631"
        ],
        "synonyms": [
          "cornea disease",
          "cornea disease or disorder",
          "corneal disease",
          "corneal disorder",
          "disease of cornea",
          "disease or disorder of cornea",
          "disorder of cornea"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma."
      },
      "child_count": 24,
      "reference_id": "MONDO:0000942"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3211,
      "label": "corneal disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}