{
  "id": 10518,
  "label": "glaucoma 3A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009277",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 25057,
      "label": "CYP1B1-related glaucoma with or without anterior segment dysgenesis"
    }
  ]
}