{
  "id": 15917,
  "label": "aniridia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014938",
  "properties": {
    "xrefs": [
      "GARD:0016201",
      "MEDGEN:934662",
      "OMIM:617142",
      "UMLS:C4310695"
    ],
    "synonyms": [
      "AN3",
      "TRIM44 isolated aniridia",
      "aniridia 3",
      "aniridia 3; AN3",
      "aniridia type 3",
      "isolated aniridia caused by mutation in TRIM44"
    ],
    "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 isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 4709,
      "label": "iris cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4710,
        20435
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3478",
          "MEDGEN:91103",
          "NCIT:C4554",
          "SCTID:188264002",
          "UMLS:C0346372",
          "icd11.foundation:982190055"
        ],
        "synonyms": [
          "tumor of the iris",
          "tumour of the iris",
          "cancer of iris",
          "iris cancer",
          "malignant iris neoplasm",
          "malignant iris tumor",
          "malignant iris tumour",
          "malignant neoplasm of iris",
          "malignant neoplasm of the iris",
          "malignant tumor of iris",
          "malignant tumor of the iris",
          "malignant tumour of iris",
          "malignant tumour of the iris"
        ],
        "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 malignant neoplasm involving the iris."
      },
      "child_count": 8,
      "reference_id": "MONDO:0002658"
    },
    {
      "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": 8531,
      "label": "isolated aniridia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19047
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005816",
          "OMIMPS:106210",
          "Orphanet:250923"
        ],
        "synonyms": [
          "nonsyndromic aniridia",
          "aniridia without systemic involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007119"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 4546,
      "label": "eye carcinoma"
    },
    {
      "id": 4709,
      "label": "iris cancer"
    },
    {
      "id": 5006,
      "label": "hereditary renal cell carcinoma"
    },
    {
      "id": 8531,
      "label": "isolated aniridia"
    },
    {
      "id": 24259,
      "label": "SMARCB1-deficient kidney medullary carcinoma"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}