{
  "id": 11341,
  "label": "mismatch repair cancer syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010159",
  "properties": {
    "xrefs": [
      "GARD:0000420",
      "MEDGEN:1748029",
      "MESH:C536928",
      "NORD:1805",
      "OMIM:276300",
      "SCTID:61665008",
      "UMLS:C5399763"
    ],
    "synonyms": [
      "BTP1 syndrome",
      "MLH1-related constitutional mismatch repair deficiency syndrome",
      "MMRCS1",
      "Turcot Syndrome",
      "brain tumor-polyposis syndrome 1",
      "mismatch repair cancer syndrome 1",
      "CNS tumors with familial polyposis of the colon",
      "CNS tumours with familial polyposis of the colon",
      "MMR deficiency",
      "MMRCS",
      "Turcot syndrome",
      "brain tumor-polyposis syndrome",
      "childhood cancer syndrome",
      "glioma-polyposis syndrome",
      "malignant tumors of the central nervous system associated with familial polyposis of the colon",
      "malignant tumours of the central nervous system associated with familial polyposis of the colon",
      "mismatch repair cancer syndrome",
      "mismatch repair deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 22228,
      "label": "mismatch repair cancer syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        20416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112182",
          "GARD:0017217",
          "MEDGEN:78553",
          "NCIT:C130202",
          "OMIMPS:276300",
          "Orphanet:252202",
          "UMLS:C0265325"
        ],
        "synonyms": [
          "constitutional mismatch repair deficiency syndrome"
        ],
        "definition": "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1."
      },
      "child_count": 8,
      "reference_id": "MONDO:0031219"
    },
    {
      "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": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 22228,
      "label": "mismatch repair cancer syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}