{
  "id": 2866,
  "label": "primary congenital glaucoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000365",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19827,
      "label": "congenital glaucoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18318
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11212",
          "GARD:0025157",
          "ICD9:743.2",
          "ICD9:743.20",
          "MEDGEN:42532",
          "MESH:D006871",
          "NCIT:C50648",
          "SCTID:204113001",
          "UMLS:C0020302"
        ],
        "synonyms": [
          "Buphthalmus",
          "buphthalmia",
          "buphthalmos",
          "hydrophthalmos",
          "primary congenital glaucoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020366"
    }
  ],
  "children": [
    {
      "id": 14159,
      "label": "glaucoma 3, primary congenital, C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2866
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018225",
          "MEDGEN:854718",
          "OMIM:613085",
          "UMLS:C3888011"
        ],
        "synonyms": [
          "GLC3C",
          "glaucoma 3, primary congenital, C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013121"
    },
    {
      "id": 14160,
      "label": "glaucoma 3, primary congenital, D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2866,
        23976
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013122"
    },
    {
      "id": 25057,
      "label": "CYP1B1-related glaucoma with or without anterior segment dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2866
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026571"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800472"
    }
  ],
  "roots": [
    {
      "id": 19827,
      "label": "congenital glaucoma"
    }
  ]
}