{
  "id": 16640,
  "label": "isolated ectopia lentis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015998",
  "properties": {
    "xrefs": [
      "DOID:0111148",
      "GARD:0012251",
      "MEDGEN:342716",
      "MESH:C536184",
      "MedDRA:10014145",
      "NCIT:C34566",
      "Orphanet:1885",
      "PMID:20141359",
      "SCTID:74969002",
      "UMLS:C1851286"
    ],
    "synonyms": [
      "ectopia lentis syndrome",
      "familial ectopia lentis",
      "isolated lens position anomaly",
      "nonsyndromic lens position anomaly",
      "congenital ectopic lens"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3420,
      "label": "lens disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:110",
          "EFO:0009674",
          "ICD10CM:H25-H28",
          "ICD9:379.39",
          "MEDGEN:892382",
          "MESH:D007905",
          "NCIT:C26812",
          "SCTID:10810001",
          "UMLS:C0549651"
        ],
        "synonyms": [
          "disease of lens of camera-type eye",
          "disease or disorder of lens of camera-type eye",
          "disorder of lens of camera-type eye",
          "lens disorder",
          "lens of camera-type eye disease",
          "lens of camera-type eye disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the lens of camera-type eye."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001176"
    }
  ],
  "children": [
    {
      "id": 8897,
      "label": "ectopia lentis 1, isolated, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16640
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111150",
          "GARD:0015062",
          "MEDGEN:762106",
          "OMIM:129600",
          "UMLS:C3541518"
        ],
        "synonyms": [
          "ECTOL1",
          "FBN1 isolated ectopia lentis",
          "ectopia lentis 1, isolated, autosomal dominant",
          "ectopia lentis, familial",
          "isolated ectopia lentis caused by mutation in FBN1",
          "autosomal dominant isolated ectopia lentis 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007514"
    },
    {
      "id": 10396,
      "label": "ectopia lentis 2, isolated, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16640
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111149",
          "GARD:0002060",
          "MEDGEN:762100",
          "OMIM:225100",
          "UMLS:C3541474"
        ],
        "synonyms": [
          "ECTOL2",
          "ectopia lentis 2, isolated, autosomal recessive",
          "ectopia lentis, isolated, autosomal recessive",
          "autosomal recessive isolated ectopia lentis",
          "autosomal recessive isolated ectopia lentis 2",
          "ectopia lentis, isolated autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009152"
    },
    {
      "id": 10397,
      "label": "ectopia lentis et pupillae",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        16640
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111648",
          "GARD:0015164",
          "MEDGEN:301316",
          "MESH:C563268",
          "OMIM:225200",
          "SCTID:419237004",
          "UMLS:C1644196"
        ],
        "synonyms": [
          "ectopia lentis et pupillae",
          "ectopia lentis with ectopia of pupil"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009153"
    }
  ],
  "roots": [
    {
      "id": 3420,
      "label": "lens disorder"
    }
  ]
}