{
  "id": 8747,
  "label": "coloboma of optic nerve",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007354",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 3690,
      "label": "coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001476"
    },
    {
      "id": 4014,
      "label": "visual pathway disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20325
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1393",
          "ICD10CM:H47.9",
          "MEDGEN:57831",
          "NCIT:C35342",
          "SCTID:54767005",
          "SCTID:95776004",
          "UMLS:C0155287"
        ],
        "synonyms": [
          "disease of optic tract",
          "disease or disorder of optic tract",
          "disorder of optic tract",
          "optic tract disease",
          "optic tract disease or disorder",
          "visual pathway disorder",
          "optic tract disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disorder of the neural pathway from the optic nerve to the visual cortex."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001834"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 18313,
      "label": "morning glory syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8747,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013354",
          "MEDGEN:767635",
          "MedDRA:10027974",
          "Orphanet:35737",
          "UMLS:C3554721"
        ],
        "synonyms": [
          "Ectasic coloboma",
          "Volubilis syndrome"
        ],
        "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": "Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018169"
    }
  ],
  "roots": [
    {
      "id": 3690,
      "label": "coloboma"
    },
    {
      "id": 4014,
      "label": "visual pathway disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}