{
  "id": 10396,
  "label": "ectopia lentis 2, isolated, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009152",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16640,
      "label": "isolated ectopia lentis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3420
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015998"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16640,
      "label": "isolated ectopia lentis"
    }
  ]
}