{
  "id": 10297,
  "label": "Fraser syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009046",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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"
    },
    {
      "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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 23604,
      "label": "Fraser syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10297
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111405",
          "GARD:0025962",
          "MEDGEN:1639061",
          "OMIM:219000",
          "UMLS:C4551480"
        ],
        "synonyms": [
          "Fraser syndrome 1",
          "FRASRS1",
          "Fraser syndrome",
          "cryptophthalmos with Other malformations",
          "cryptophthalmos-syndactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054737"
    },
    {
      "id": 23605,
      "label": "Fraser syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10297
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111407",
          "GARD:0025963",
          "MEDGEN:1624349",
          "OMIM:617666",
          "UMLS:C4540036"
        ],
        "synonyms": [
          "Fraser syndrome 2",
          "FRASRS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054738"
    },
    {
      "id": 23606,
      "label": "Fraser syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10297
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111406",
          "GARD:0025964",
          "MEDGEN:1621907",
          "OMIM:617667",
          "UMLS:C4540040"
        ],
        "synonyms": [
          "Fraser syndrome 3",
          "FRASRS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054739"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19754,
      "label": "cryptophthalmia"
    }
  ]
}