{
  "id": 25057,
  "label": "CYP1B1-related glaucoma with or without anterior segment dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800472",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "id": 10518,
      "label": "glaucoma 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11211",
          "GARD:0018224",
          "ICD9:743.21",
          "MEDGEN:383912",
          "NCIT:C148260",
          "OMIM:231300",
          "Orphanet:98976",
          "UMLS:C1856439"
        ],
        "synonyms": [
          "buphthalmos",
          "Primary Congenital glaucoma 3A",
          "glaucoma 3, primary congenital, type a",
          "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset",
          "GLC3A",
          "glaucoma 3, primary congenital, A",
          "glaucoma, congenital",
          "glaucoma, primary open angle, adult-onset",
          "glaucoma, primary open angle, juvenile-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009277"
    },
    {
      "id": 15992,
      "label": "anterior segment dysgenesis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19321,
        25057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080611",
          "GARD:0025051",
          "MEDGEN:934590",
          "OMIM:617315",
          "UMLS:C4310623"
        ],
        "synonyms": [
          "ASGD6",
          "anterior segment dysgenesis 6",
          "anterior segment dysgenesis 6, multiple subtypes",
          "anterior segment dysgenesis type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015016"
    }
  ],
  "roots": [
    {
      "id": 2866,
      "label": "primary congenital glaucoma"
    }
  ]
}