{
  "id": 5006,
  "label": "hereditary renal cell carcinoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003008",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7199,
      "label": "renal cell adenocarcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005708",
          "GARD:0024205",
          "ICDO:8311/1",
          "ICDO:8312/3",
          "NANDO:2200045",
          "NCIT:C9385"
        ],
        "synonyms": [
          "renal cell carcinoma",
          "RCC",
          "adenocarcinoma of kidney",
          "adenocarcinoma of the kidney",
          "carcinoma, renal cell, malignant",
          "kidney adenocarcinoma",
          "renal cell adenocarcinoma",
          "renal cell cancer",
          "renal cell carcinoma, stage unspecified"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy."
      },
      "child_count": 9,
      "reference_id": "MONDO:0005549"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [
    {
      "id": 5668,
      "label": "hereditary papillary renal cell carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5006,
        18097
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6163",
          "GARD:0013157",
          "MEDGEN:163907",
          "NCIT:C9222",
          "OMIM:605074",
          "Orphanet:47044",
          "SCTID:715561008",
          "UMLS:C0879257"
        ],
        "synonyms": [
          "familial renal papillary carcinoma",
          "hereditary kidney papillary carcinoma",
          "hereditary papillary carcinoma of kidney",
          "hereditary papillary carcinoma of the kidney",
          "hereditary papillary renal carcinoma",
          "hereditary papillary renal cell cancer",
          "hereditary papillary renal cell carcinoma",
          "renal cell carcinoma, papillary",
          "renal cell carcinoma, papillary, 1, familial and somatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003789"
    },
    {
      "id": 10007,
      "label": "adrenocortical carcinoma, hereditary",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5006,
        8111
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015132",
          "MEDGEN:348508",
          "MESH:C565972",
          "OMIM:202300",
          "UMLS:C1859972"
        ],
        "synonyms": [
          "adrenocortical carcinoma, hereditary",
          "hereditary adrenal cortex carcinoma",
          "ADCC",
          "adrenocortical carcinoma, paediatric",
          "adrenocortical carcinoma, pediatric"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008734"
    },
    {
      "id": 11615,
      "label": "renal cell carcinoma, Xp11-associated",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5006,
        18099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018445",
          "MEDGEN:477077",
          "OMIM:300854",
          "UMLS:C3275446"
        ],
        "synonyms": [
          "renal cell carcinoma, Xp11-associated",
          "renal cell carcinoma, papillary, 1",
          "RCCX1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010456"
    },
    {
      "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": 18529,
      "label": "hereditary clear cell renal cell carcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5006,
        6743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7192",
          "GARD:0009571",
          "MEDGEN:234343",
          "NCIT:C36260",
          "Orphanet:422526",
          "SCTID:764961009",
          "UMLS:C1333985"
        ],
        "synonyms": [
          "Hereditary clear cell renal cell cancer",
          "hereditary clear cell renal carcinoma",
          "hereditary clear cell renal cell adenocarcinoma",
          "hereditary clear cell renal cell carcinoma",
          "hereditary conventional (clear cell) renal cell carcinoma",
          "hereditary conventional renal cell carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018492"
    },
    {
      "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": 7199,
      "label": "renal cell adenocarcinoma"
    },
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}