{
  "id": 9679,
  "label": "retinoblastoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008380",
  "properties": {
    "xrefs": [
      "DOID:768",
      "GARD:0007563",
      "ICDO:9510/3",
      "MEDGEN:20552",
      "MESH:D012175",
      "MedDRA:10038916",
      "NANDO:2200042",
      "NCIT:C7541",
      "ONCOTREE:RBL",
      "Orphanet:790",
      "SCTID:370967009",
      "UMLS:C0035335",
      "icd11.foundation:1855353671"
    ],
    "synonyms": [
      "RB",
      "retinoblastoma",
      "retinoblastoma, malignant",
      "RB1",
      "Rb",
      "eye cancer, retinoblastoma"
    ],
    "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 tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 6154,
      "label": "retinal cell cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5060,
        21370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:771"
        ],
        "synonyms": [
          "cancer of retinal cell",
          "malignant neoplasm of retinal cell",
          "malignant retinal cell neoplasm",
          "retinal cell cancer"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0004338"
    }
  ],
  "children": [
    {
      "id": 5061,
      "label": "trilateral retinoblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4647",
          "GARD:0023353",
          "MEDGEN:392856",
          "NCIT:C7019",
          "UMLS:C2608045"
        ],
        "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": "Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003073"
    },
    {
      "id": 5062,
      "label": "bilateral retinoblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4650",
          "GARD:0023354",
          "MEDGEN:163163",
          "NANDO:2201038",
          "NCIT:C8713",
          "UMLS:C0854914"
        ],
        "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": "Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003075"
    },
    {
      "id": 5063,
      "label": "unilateral retinoblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4651",
          "GARD:0023355",
          "MEDGEN:208929",
          "NCIT:C8714",
          "UMLS:C0854915"
        ],
        "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 retinoblastoma that only involves a single eye."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003076"
    },
    {
      "id": 5064,
      "label": "intraocular retinoblastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4653",
          "GARD:0023356",
          "MEDGEN:78874",
          "NCIT:C7846",
          "UMLS:C0278717"
        ],
        "synonyms": [
          "intraocular retinoblastoma"
        ],
        "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": "Retinoblastoma restricted to local involvement."
      },
      "child_count": 1,
      "reference_id": "MONDO:0003077"
    },
    {
      "id": 5065,
      "label": "extraocular retinoblastoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4656",
          "GARD:0023357",
          "MEDGEN:75861",
          "NCIT:C7848",
          "UMLS:C0278719"
        ],
        "synonyms": [
          "extraocular retinoblastoma",
          "metastatic retinoblastoma"
        ],
        "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": "Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow."
      },
      "child_count": 1,
      "reference_id": "MONDO:0003078"
    },
    {
      "id": 18304,
      "label": "hereditary retinoblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        9679,
        16218,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4648",
          "GARD:0017544",
          "MEDGEN:155869",
          "NCIT:C8495",
          "OMIM:180200",
          "Orphanet:357027",
          "UMLS:C0751483"
        ],
        "synonyms": [
          "RB1",
          "RB1-related retinoblastoma predisposition",
          "familial retinoblastoma",
          "hereditary retinoblastoma",
          "retinoblastoma, autosomal dominant, somatic mutation",
          "retinoblastoma, trilateral, autosomal dominant, somatic mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018160"
    },
    {
      "id": 18305,
      "label": "non-hereditary retinoblastoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0005717",
          "GARD:0017545",
          "MEDGEN:1842255",
          "Orphanet:357034",
          "UMLS:C5680987"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018161"
    }
  ],
  "roots": [
    {
      "id": 6154,
      "label": "retinal cell cancer"
    }
  ]
}