{
  "id": 24259,
  "label": "SMARCB1-deficient kidney medullary carcinoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100534",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7806,
      "label": "kidney medullary carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070475",
          "EFO:1000314",
          "GARD:0013175",
          "MEDGEN:888108",
          "MedDRA:10064886",
          "NCIT:C7572",
          "NORD:1999",
          "ONCOTREE:MRC",
          "Orphanet:319319",
          "UMLS:C4049328"
        ],
        "synonyms": [
          "Renal Medullary Carcinoma",
          "carcinoma of renal medulla",
          "kidney medullary carcinoma",
          "renal medulla carcinoma",
          "renal medullary carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006260"
    }
  ],
  "children": [
    {
      "id": 15916,
      "label": "aniridia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4546,
        4709,
        5006,
        8531,
        24259,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016200",
          "MEDGEN:138010",
          "MESH:C536372",
          "OMIM:617141",
          "SCTID:253232000",
          "UMLS:C0344543"
        ],
        "synonyms": [
          "AN2",
          "aniridia 2",
          "aniridia type 2"
        ],
        "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:0014937"
    },
    {
      "id": 15917,
      "label": "aniridia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4546,
        4709,
        5006,
        8531,
        24259,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014938"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 7806,
      "label": "kidney medullary carcinoma"
    }
  ]
}