{
  "id": 8993,
  "label": "foveal hypoplasia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007628",
  "properties": {
    "xrefs": [
      "DOID:0070530",
      "GARD:0024566",
      "MEDGEN:811934",
      "OMIM:136520",
      "UMLS:C3805604"
    ],
    "synonyms": [
      "PAX6 foveal hypoplasia",
      "foveal hypoplasia 1",
      "foveal hypoplasia caused by mutation in PAX6",
      "foveal hypoplasia type 1",
      "FVH1",
      "O Donnell Pappas syndrome",
      "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract",
      "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts",
      "foveal hypoplasia, presenile cataract"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23292,
      "label": "foveal hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:393047",
          "OMIMPS:136520",
          "UMLS:C2673946"
        ],
        "synonyms": [
          "FVH"
        ],
        "definition": "Underdevelopment of the fovea centralis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0044203"
    },
    {
      "id": 24875,
      "label": "PAX6-related ocular dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4546,
        5006,
        24259,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026474"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800183"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23292,
      "label": "foveal hypoplasia"
    },
    {
      "id": 24875,
      "label": "PAX6-related ocular dysgenesis"
    }
  ]
}