{
  "id": 24278,
  "label": "OPTN-related open angle glaucoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100553",
  "properties": {
    "xrefs": [
      "GARD:0026277",
      "MEDGEN:87389",
      "OMIM:137760",
      "UMLS:C0339573"
    ],
    "synonyms": [
      "OPTN-related open angle glaucoma",
      "glaucoma 1, open angle, E"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7024,
      "label": "open-angle glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1067",
          "EFO:0004190",
          "ICD10CM:H40.1",
          "ICD9:365.1",
          "ICD9:365.10",
          "ICD9:365.13",
          "MEDGEN:6611",
          "MESH:D005902",
          "NCIT:C34641",
          "SCTID:46168003",
          "SCTID:84494001",
          "UMLS:C0017612"
        ],
        "synonyms": [
          "POAG",
          "glaucoma, primary open angle",
          "open angle glaucoma",
          "pigmentary glaucoma",
          "primary open angle glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage."
      },
      "child_count": 7,
      "reference_id": "MONDO:0005338"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002486",
          "MEDGEN:777991",
          "MESH:C580055",
          "Orphanet:359",
          "UMLS:C3711383"
        ],
        "synonyms": [
          "hereditary glaucoma (disease)",
          "glaucoma, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018174"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7024,
      "label": "open-angle glaucoma"
    },
    {
      "id": 18318,
      "label": "hereditary glaucoma"
    }
  ]
}