{
  "id": 19827,
  "label": "congenital glaucoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020366",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": [
    {
      "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": 12097,
      "label": "glaucoma 3, primary infantile, B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002490",
          "MEDGEN:331409",
          "MESH:C536824",
          "OMIM:600975",
          "UMLS:C1832977"
        ],
        "synonyms": [
          "GLC3B",
          "glaucoma 3, primary infantile, B",
          "GLC3 type B",
          "Glc3, type B",
          "glaucoma 3 primary infantile B",
          "glaucoma primary congenita type 3B",
          "glaucoma, primary congenital, type B",
          "primary congenital glaucoma",
          "primary congenital glaucoma type 3B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010968"
    },
    {
      "id": 12252,
      "label": "glaucoma type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7024,
        19827
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002484",
          "MEDGEN:356544",
          "OMIM:601682",
          "UMLS:C1866483"
        ],
        "synonyms": [
          "glaucoma 1C, primary open angle",
          "GLC1C",
          "glaucoma 1, primary open angle, C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011129"
    },
    {
      "id": 15974,
      "label": "glaucoma 3, primary congenital, E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19827,
        24874
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018227",
          "MEDGEN:934606",
          "OMIM:617272",
          "UMLS:C4310639"
        ],
        "synonyms": [
          "GLC3E",
          "glaucoma 3, primary congenital, E",
          "glaucoma 3, primary congenital, E; GLC3E",
          "glaucoma 3, primary congenital, type E"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014998"
    }
  ],
  "roots": [
    {
      "id": 18318,
      "label": "hereditary glaucoma"
    }
  ]
}