{
  "id": 14160,
  "label": "glaucoma 3, primary congenital, D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013122",
  "properties": {
    "xrefs": [
      "GARD:0018226",
      "MEDGEN:416524",
      "MESH:C567765",
      "OMIM:613086",
      "UMLS:C2751316"
    ],
    "synonyms": [
      "glaucoma 3, primary congenital, D",
      "glaucoma 3, primary congenital, type D",
      "GLC3D"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2866,
      "label": "primary congenital glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050593",
          "GARD:0022755",
          "HP:0008007",
          "MEDGEN:288550",
          "NCIT:C150251",
          "SCTID:415176004",
          "UMLS:C1533041",
          "icd11.foundation:517092878"
        ],
        "synonyms": [
          "primary congenital glaucoma",
          "primary congenital glaucoma (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000365"
    },
    {
      "id": 23976,
      "label": "LTBP2-related ocular dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7019
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100236"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2866,
      "label": "primary congenital glaucoma"
    },
    {
      "id": 23976,
      "label": "LTBP2-related ocular dysgenesis"
    }
  ]
}