{
  "id": 23994,
  "label": "CTNNA1-related diffuse gastric and lobular breast cancer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100256",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2991,
      "label": "breast lobular carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6729
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050938",
          "EFO:0008509",
          "ICDO:8520/3",
          "MEDGEN:64634",
          "NCIT:C3771",
          "SCTID:278054005",
          "UMLS:C0206692"
        ],
        "synonyms": [
          "carcinoma of lobule of mammary gland",
          "lobular adenocarcinoma",
          "lobular breast carcinoma",
          "lobular carcinoma",
          "lobular carcinoma of breast",
          "lobular carcinoma of the breast",
          "lobule of mammary gland carcinoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000552"
    },
    {
      "id": 6770,
      "label": "gastric adenocarcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6695,
        6712
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3717",
          "EFO:0000503",
          "GARD:0027713",
          "MEDGEN:82961",
          "NCIT:C4004",
          "ONCOTREE:STAD",
          "Orphanet:464463",
          "SCTID:408647009",
          "UMLS:C0278701",
          "icd11.foundation:1855471719"
        ],
        "synonyms": [
          "adenocarcinoma - stomach",
          "adenocarcinoma of stomach",
          "adenocarcinoma of the stomach",
          "gastric (stomach) adenocarcinoma",
          "gastric adenocarcinoma",
          "stomach adenocarcinoma",
          "STAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A carcinoma that arises from glandular epithelial cells of the stomach"
      },
      "child_count": 18,
      "reference_id": "MONDO:0005036"
    },
    {
      "id": 16935,
      "label": "hereditary breast carcinoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6730
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017142",
          "MEDGEN:87542",
          "MESH:C562840",
          "NCIT:C4503",
          "OMIM:114480",
          "Orphanet:227535",
          "SCTID:254843006",
          "UMLS:C0346153"
        ],
        "synonyms": [
          "breast cancer susceptibility, autosomal dominant, somatic mutation",
          "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
          "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
          "breast cancer, lobular, somatic",
          "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
          "breast cancer, protection against, autosomal dominant, somatic mutation",
          "breast cancer, somatic",
          "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
          "familial breast cancer",
          "familial breast carcinoma",
          "familial cancer of breast",
          "familial cancer of the breast",
          "hereditary breast cancer",
          "hereditary breast carcinoma",
          "breast cancer, familial",
          "breast cancer, familial Male"
        ],
        "categories": [
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016419"
    },
    {
      "id": 18536,
      "label": "hereditary gastric cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6695
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018502"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2991,
      "label": "breast lobular carcinoma"
    },
    {
      "id": 6770,
      "label": "gastric adenocarcinoma"
    },
    {
      "id": 16935,
      "label": "hereditary breast carcinoma"
    },
    {
      "id": 18536,
      "label": "hereditary gastric cancer"
    }
  ]
}