{
  "id": 21489,
  "label": "brittle cornea syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024543",
  "properties": {
    "xrefs": [
      "GARD:0025424",
      "MEDGEN:78661",
      "MESH:C536192",
      "OMIM:229200",
      "SCTID:31798004",
      "UMLS:C0268344"
    ],
    "synonyms": [
      "ZNF469 brittle cornea syndrome",
      "brittle cornea syndrome 1",
      "brittle cornea syndrome caused by mutation in ZNF469",
      "BCS1",
      "Ehlers-Danlos syndrome, type Vib",
      "Ehlers-Danlos syndrome, type Vib, formerly",
      "Fragilitas oculi with Joint hyperextensibility",
      "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility",
      "dysgenesis Mesodermalis corneae Et sclerae"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10485,
      "label": "brittle cornea syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211,
        7611,
        19720,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14775",
          "GARD:0001019",
          "OMIMPS:229200",
          "Orphanet:90354",
          "SCTID:719096006"
        ],
        "synonyms": [
          "brittle cornea syndrome",
          "brittle cornea syndrome type 1",
          "kyphoscoliosis type",
          "brittle cornea syndrome 2",
          "BCS1",
          "EDS VIB (formerly)",
          "Ehlers-Danlos syndrome type 6B (formerly)",
          "Ehlers-Danlos syndrome type 6b",
          "brittle cornea syndrome 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009242"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10485,
      "label": "brittle cornea syndrome"
    }
  ]
}