{
  "id": 18536,
  "label": "hereditary gastric cancer",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018502",
  "properties": {
    "xrefs": [
      "GARD:0021758",
      "MEDGEN:1843054",
      "Orphanet:423776",
      "UMLS:C5680075"
    ],
    "synonyms": [
      "hereditary cancer of stomach",
      "hereditary gastric cancer"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6695,
      "label": "gastric carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3312,
        7738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10538",
          "DOID:5517",
          "EFO:0000178",
          "GARD:0027710",
          "ICD9:151.3",
          "MEDGEN:147066",
          "NCIT:C4911",
          "SCTID:187741001",
          "UMLS:C0699791",
          "icd11.foundation:1503707183"
        ],
        "synonyms": [
          "cancer of stomach",
          "cancer of the stomach",
          "gastric (stomach) cancer",
          "gastric cancer",
          "gastric cancer, NOS",
          "stomach cancer",
          "carcinoma of stomach",
          "carcinoma of the stomach",
          "gastric carcinoma",
          "stomach carcinoma",
          "Ca fundus - stomach",
          "cancer of fundus of stomach",
          "fundus of stomach cancer",
          "gastric fundus cancer",
          "malignant fundus of stomach neoplasm",
          "malignant neoplasm of fundus of stomach",
          "malignant tumor of fundus of stomach",
          "malignant tumour of fundus of stomach"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A carcinoma that arises from epithelial cells of the stomach."
      },
      "child_count": 24,
      "reference_id": "MONDO:0004950"
    }
  ],
  "children": [
    {
      "id": 7779,
      "label": "gastric mucosa-associated lymphoid tissue lymphoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7558,
        9011,
        18536,
        23066
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000274",
          "GARD:0024340",
          "MEDGEN:232547",
          "NCIT:C5266",
          "UMLS:C1333782"
        ],
        "synonyms": [
          "MALT lymphoma of stomach",
          "MALT lymphoma of the stomach",
          "MALToma of stomach",
          "MALToma of the stomach",
          "gastric MALT lymphoma",
          "gastric MALToma",
          "gastric mucosa-associated lymphoid tissue lymphoma",
          "primary MALT lymphoma of stomach",
          "primary MALT lymphoma of the stomach",
          "primary gastric B-cell MALT lymphoma",
          "primary gastric MALT lymphoma",
          "stomach MALT lymphoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0006226"
    },
    {
      "id": 9010,
      "label": "hereditary diffuse gastric adenocarcinoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6754,
        18536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080764",
          "GARD:0010900",
          "MEDGEN:310839",
          "NCIT:C43295",
          "Orphanet:26106",
          "SCTID:716859000",
          "UMLS:C1708349"
        ],
        "synonyms": [
          "FDGC",
          "HDGC",
          "familial diffuse cancer of stomach",
          "familial diffuse gastric cancer",
          "hereditary diffuse cancer of stomach",
          "hereditary diffuse gastric adenocarcinoma",
          "hereditary diffuse gastric cancer",
          "diffuse gastric cancer",
          "signet cell adenocarcinoma",
          "signet ring cell gastric carcinoma",
          "signet ring gastric carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007648"
    },
    {
      "id": 18013,
      "label": "gastric adenocarcinoma and proximal polyposis of the stomach",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2742,
        2903,
        18536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017416",
          "MEDGEN:1657285",
          "NCIT:C172989",
          "OMIM:619182",
          "Orphanet:314022",
          "UMLS:C4749917"
        ],
        "synonyms": [
          "APC-related gastric adenocarcinoma and proximal polyposis of the stomach",
          "GAPPS",
          "familial fundic gland polyposis with gastric cancer",
          "fundic gland polyposis",
          "polyposis, gastric",
          "polyposis, gastric, Dos Santos and de Magalhaes 1980"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An autosomal dominant disorder caused by specific pathogenic variants in the APC gene promoter, characterized by proximal gastric polyposis and an increased risk of gastric adenocarcinoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017790"
    },
    {
      "id": 23994,
      "label": "CTNNA1-related diffuse gastric and lobular breast cancer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2991,
        6770,
        16935,
        18536
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026099"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Germline pathogenic or likely pathogenic variants in the CTNNA1 gene predispose to hereditary diffuse gastric cancer and lobular breast cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100256"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6695,
      "label": "gastric carcinoma"
    }
  ]
}