{
  "id": 3690,
  "label": "coloboma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001476",
  "properties": {
    "xrefs": [
      "DOID:12270",
      "ICD9:743.49",
      "MEDGEN:1046",
      "MESH:D003103",
      "NCIT:C98877",
      "Orphanet:194",
      "SCTID:93390002",
      "UMLS:C0009363"
    ],
    "synonyms": [
      "coloboma of the eye",
      "ocular coloboma",
      "coloboma of macula",
      "congenital ocular coloboma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "An abnormality in which a part of a structure in one or both eyes is missing."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    }
  ],
  "children": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        3690,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003644",
          "MEDGEN:444071",
          "MESH:C537463",
          "OMIMPS:300345",
          "Orphanet:98938",
          "UMLS:C2931500",
          "icd11.foundation:1208828500"
        ],
        "synonyms": [
          "MAC",
          "colobomatous microphthalmia",
          "microphthalmia with colobomatous cyst",
          "microphthalmia-anophthalmia-coloboma syndrome",
          "MCOPCB1",
          "microphthalmia associated with colobomatous cyst",
          "microphthalmos bilateral, colobomatous orbital cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma."
      },
      "child_count": 36,
      "reference_id": "MONDO:0000170"
    },
    {
      "id": 8743,
      "label": "coloboma, ocular, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3690,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1859952",
          "OMIM:120200",
          "UMLS:C5886785"
        ],
        "synonyms": [
          "coloboma, ocular",
          "coloboma, ocular, autosomal dominant",
          "coloboma of iris, choroid, and retina",
          "coloboma, Uveoretinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0007350"
    },
    {
      "id": 8744,
      "label": "coloboma of macula",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001436",
          "MEDGEN:342305",
          "OMIM:120300",
          "Orphanet:98945",
          "UMLS:C1852767",
          "icd11.foundation:366058642"
        ],
        "synonyms": [
          "coloboma of macula",
          "agenesis of macula",
          "hereditary macular coloboma (subtype)",
          "macular coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007351"
    },
    {
      "id": 8747,
      "label": "coloboma of optic nerve",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3690,
        4014,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11975",
          "GARD:0001438",
          "HP:0000588",
          "ICD9:377.23",
          "MEDGEN:57832",
          "MESH:C535970",
          "OMIM:120430",
          "Orphanet:98947",
          "SCTID:17541006",
          "UMLS:C0155299",
          "icd11.foundation:592278969"
        ],
        "synonyms": [
          "coloboma of optic nerve (disease)",
          "coloboma of optic papilla",
          "optic nerve coloboma",
          "congenital coloboma of the optic nerve",
          "coloboma of optic disc",
          "morning glory Disc anomaly",
          "optic nerve head pits, bilateral congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0007354"
    },
    {
      "id": 10257,
      "label": "coloboma, ocular, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:860411",
          "OMIM:216820",
          "UMLS:C4011974"
        ],
        "synonyms": [
          "coloboma, ocular, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009002"
    },
    {
      "id": 19817,
      "label": "coloboma of eye lens",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001433",
          "MEDGEN:451043",
          "Orphanet:98943",
          "UMLS:C0344516",
          "icd11.foundation:1368271881"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020355"
    },
    {
      "id": 19819,
      "label": "coloboma of eyelid",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3690
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019605",
          "MEDGEN:141737",
          "NCIT:C98878",
          "Orphanet:98946",
          "SCTID:95202004",
          "UMLS:C0521573",
          "icd11.foundation:684436925"
        ],
        "synonyms": [
          "coloboma of the eyelid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A congenital abnormality in which a part of the upper or lower eyelid tissue is missing."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020357"
    },
    {
      "id": 20811,
      "label": "calloso-genital dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3690,
        4016,
        10275
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027362",
          "MEDGEN:419867",
          "MESH:C537962",
          "UMLS:C2931677"
        ],
        "synonyms": [
          "primary amenorrhoea with coloboma and total agenesis of the corpus callosum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022060"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}