{
  "id": 19754,
  "label": "cryptophthalmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020153",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5315,
      "label": "eyelid disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2924,
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:530",
          "EFO:0009547",
          "ICD10CM:H00",
          "ICD9:374.89",
          "ICD9:374.9",
          "MEDGEN:41938",
          "MESH:D005141",
          "NCIT:C26768",
          "SCTID:60113004",
          "UMLS:C0015423"
        ],
        "synonyms": [
          "disease of eyelid",
          "disease or disorder of eyelid",
          "disorder of eyelid",
          "eyelid disease",
          "eyelid disease or disorder",
          "eyelid disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the eyelid."
      },
      "child_count": 40,
      "reference_id": "MONDO:0003382"
    }
  ],
  "children": [
    {
      "id": 8801,
      "label": "isolated cryptophthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19754
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007410"
    },
    {
      "id": 10297,
      "label": "Fraser syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16089,
        19754
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090001",
          "GARD:0006465",
          "MEDGEN:82692",
          "MESH:D058497",
          "NCIT:C118436",
          "NORD:1160",
          "OMIMPS:219000",
          "Orphanet:2052",
          "SCTID:204102004",
          "UMLS:C0265233",
          "icd11.foundation:968262849"
        ],
        "synonyms": [
          "Fraser syndrome",
          "cryptophthalmos-syndactyly syndrome",
          "Fraser-Francois syndrome",
          "Meyer-Schwickerath's syndrome",
          "Ulrich-Feichtiger syndrome",
          "cryptophthalmos syndrome",
          "cryptophthalmos with Other malformations",
          "cyclopism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly."
      },
      "child_count": 12,
      "reference_id": "MONDO:0009046"
    }
  ],
  "roots": [
    {
      "id": 5315,
      "label": "eyelid disorder"
    }
  ]
}