{
  "id": 24722,
  "label": "BMPR1A-related juvenile polyposis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700348",
  "properties": {
    "xrefs": [
      "GARD:0028022"
    ],
    "synonyms": [
      "BMPR1A-related juvenile polyposis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 17689,
      "label": "juvenile polyposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151,
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003065",
          "MEDGEN:87518",
          "NANDO:2200916",
          "NCIT:C7754",
          "NORD:280170",
          "OMIM:174900",
          "Orphanet:2929",
          "SCTID:9273005",
          "UMLS:C0345893",
          "icd11.foundation:1020795563"
        ],
        "synonyms": [
          "JIP",
          "JPS",
          "jPS",
          "juvenile gastrointestinal polyposis",
          "juvenile intestinal polyposis",
          "juvenile multiple polyps syndrome",
          "juvenile polyposis",
          "juvenile polyposis syndrome",
          "polyposis, juvenile intestinal",
          "PJI",
          "polyposis familial of entire gastrointestinal tract",
          "polyposis juvenile intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017380"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17689,
      "label": "juvenile polyposis syndrome"
    }
  ]
}