{
  "id": 9585,
  "label": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008278",
  "properties": {
    "xrefs": [
      "DOID:0111543",
      "GARD:0024614",
      "MEDGEN:331400",
      "MESH:C563412",
      "OMIM:175050",
      "UMLS:C1832942"
    ],
    "synonyms": [
      "SMAD4-related juvenile polyposis/hemorrhagic telangiectasia syndrome",
      "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
      "JP/Hht syndrome",
      "JPHT",
      "jPS/Hht",
      "juvenile polyposis with hereditary hemorrhagic telangiectasia",
      "polyposis, generalised juvenile, with pulmonary arteriovenous malformation",
      "polyposis, generalized juvenile, with pulmonary arteriovenous malformation",
      "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An autosomal dominant syndrome caused by pathogenic variants in the SMAD4 gene, characterized by the combined features of juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT). JPS features include multiple juvenile polyps in the gastrointestinal tract and an increased risk of gastrointestinal cancers. HHT features include arteriovenous malformations (AVMs) and telangiectasias."
  },
  "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": 16103,
      "label": "intestinal polyposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16218
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019847",
          "MEDGEN:577190",
          "MedDRA:10057018",
          "NCIT:C155954",
          "Orphanet:104010",
          "SCTID:254589009",
          "UMLS:C0345891"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015185"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16103,
      "label": "intestinal polyposis syndrome"
    }
  ]
}