{
  "id": 8801,
  "label": "isolated cryptophthalmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007410",
  "properties": {
    "xrefs": [
      "DOID:0111717",
      "GARD:0016797",
      "MEDGEN:342242",
      "MESH:C565138",
      "OMIM:123570",
      "Orphanet:91396",
      "SCTID:718691008",
      "UMLS:C1852453"
    ],
    "synonyms": [
      "nonsyndromic cryptophthalmia",
      "ankyloblepharon, simple",
      "cryptophthalmos with microphthalmia and Peters anomaly",
      "cryptophthalmos, unilateral or bilateral, isolated"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 19754,
      "label": "cryptophthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111716",
          "GARD:0010505",
          "ICD9:743.06",
          "MEDGEN:81386",
          "NCIT:C124520",
          "Orphanet:98562",
          "SCTID:400951005",
          "UMLS:C0311249",
          "icd11.foundation:740223582"
        ],
        "synonyms": [
          "cryptophthalmos"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020153"
    }
  ],
  "children": [
    {
      "id": 19820,
      "label": "congenital symblepharon",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8801
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111720",
          "GARD:0019606",
          "MEDGEN:509041",
          "Orphanet:98948",
          "UMLS:C0152454",
          "icd11.foundation:1595154985"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020359"
    },
    {
      "id": 19821,
      "label": "complete cryptophthalmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8801
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111719",
          "GARD:0016876",
          "MEDGEN:1773866",
          "Orphanet:98949",
          "UMLS:C5437887",
          "icd11.foundation:162797488"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020360"
    },
    {
      "id": 19822,
      "label": "partial cryptophthalmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8801
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111718",
          "GARD:0019607",
          "MEDGEN:1843099",
          "Orphanet:98950",
          "UMLS:C5681641",
          "icd11.foundation:407675981"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020361"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19754,
      "label": "cryptophthalmia"
    }
  ]
}