{
  "id": 24875,
  "label": "PAX6-related ocular dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800183",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4546,
      "label": "eye carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4185,
        4353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:295",
          "MEDGEN:208855",
          "NCIT:C6079",
          "UMLS:C0848866"
        ],
        "synonyms": [
          "carcinoma of eye",
          "carcinoma of eyeball of camera-type eye",
          "carcinoma of the eye",
          "eye carcinoma",
          "eyeball of camera-type eye carcinoma",
          "ocular carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A carcinoma that arises from epithelial cells of the eye"
      },
      "child_count": 18,
      "reference_id": "MONDO:0002466"
    },
    {
      "id": 5006,
      "label": "hereditary renal cell carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7199,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4455",
          "GARD:0023326",
          "MEDGEN:392857",
          "MESH:C536851",
          "NCIT:C39789",
          "SCTID:717736007",
          "UMLS:C2608055"
        ],
        "synonyms": [
          "hereditary renal cell cancer",
          "hereditary renal cell carcinoma",
          "hereditary renal cell carcinoma (disease)",
          "familial renal carcinoma",
          "hereditary renal carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 14,
      "reference_id": "MONDO:0003008"
    },
    {
      "id": 24259,
      "label": "SMARCB1-deficient kidney medullary carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026266",
          "MEDGEN:1817235",
          "NCIT:C189247",
          "UMLS:C5708330"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100534"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 8993,
      "label": "foveal hypoplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23292,
        24875
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007628"
    },
    {
      "id": 9448,
      "label": "isolated optic nerve hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19769,
        24875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111531",
          "GARD:0008419",
          "MEDGEN:322281",
          "NORD:1528",
          "OMIM:165550",
          "Orphanet:137902",
          "Orphanet:637061",
          "SCTID:724999003",
          "UMLS:C1833797",
          "icd11.foundation:609162974"
        ],
        "synonyms": [
          "Optic Nerve Hypoplasia",
          "familial bilateral optic nerve hypoplasia",
          "optic nerve hypoplasia, bilateral",
          "optic nerve hypoplasia, familial bilateral",
          "isolated optic nerve hypoplasia/aplasia",
          "optic nerve aplasia, bilateral",
          "optic nerve hypoplasia"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008136"
    }
  ],
  "roots": [
    {
      "id": 4546,
      "label": "eye carcinoma"
    },
    {
      "id": 5006,
      "label": "hereditary renal cell carcinoma"
    },
    {
      "id": 24259,
      "label": "SMARCB1-deficient kidney medullary carcinoma"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}