{
  "id": 10485,
  "label": "brittle cornea syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009242",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 14631,
      "label": "brittle cornea syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10485
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080729",
          "GARD:0015764",
          "MEDGEN:481641",
          "OMIM:614170",
          "UMLS:C3280011"
        ],
        "synonyms": [
          "PRDM5 brittle cornea syndrome",
          "brittle cornea syndrome 2",
          "brittle cornea syndrome caused by mutation in PRDM5",
          "brittle cornea syndrome type 2",
          "BCS2"
        ],
        "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 PRDM5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013605"
    },
    {
      "id": 21489,
      "label": "brittle cornea syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10485
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024543"
    }
  ],
  "roots": [
    {
      "id": 3211,
      "label": "corneal disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}