{
  "id": 16103,
  "label": "intestinal polyposis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015185",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "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"
    }
  ],
  "children": [
    {
      "id": 9257,
      "label": "Bannayan-Riley-Ruvalcaba syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7065,
        16087,
        16103,
        17900,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050657",
          "GARD:0005887",
          "ICD10CM:E71.440",
          "ICD9:759.6",
          "MEDGEN:78554",
          "NCIT:C3939",
          "NORD:1684",
          "OMIM:153480",
          "Orphanet:109",
          "SCTID:21984008",
          "UMLS:C0265326",
          "icd11.foundation:357383447"
        ],
        "synonyms": [
          "BRRS",
          "Bannayan syndrome",
          "Bannayan-Riley-Ruvalcaba syndrome",
          "Bannayan-Zonana syndrome",
          "Myhre-Riley-Smith syndrome",
          "RILEY-SMITH syndrome",
          "Ruvalcaba-MYHRE-SMITH syndrome",
          "macrocephaly with multiple lipomas and hemangiomas",
          "BZS",
          "RMSS",
          "Riley-Smith syndrome",
          "Ruvalcaba -Myhre-Smith syndrome",
          "Ruvalcaba-Myhre-Smith syndrome",
          "macrocephaly multiple lipomas and hemangiomata",
          "macrocephaly pseudopapilledema and multiple hemangiomas",
          "macrocephaly, multiple lipomas, and hemangiomata",
          "macrocephaly, pseudopapilledema, and multiple hemangiomata"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007924"
    },
    {
      "id": 9585,
      "label": "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16103
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008278"
    },
    {
      "id": 9586,
      "label": "Peutz-Jeghers syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3852",
          "GARD:0007378",
          "ICD9:759.6",
          "MEDGEN:18404",
          "MESH:D010580",
          "MedDRA:10034764",
          "NANDO:2200917",
          "NCIT:C3324",
          "NORD:1570",
          "OMIM:175200",
          "Orphanet:2869",
          "SCTID:54411001",
          "UMLS:C0031269",
          "icd11.foundation:969253189"
        ],
        "synonyms": [
          "Jeghers-Peutz syndrome",
          "PJS",
          "Peutz Jeghers Syndrome",
          "Peutz's syndrome",
          "Peutz-Jeghers syndrome",
          "STK11-related Peutz-Jeghers syndrome",
          "hamartomatous intestinal polyposis",
          "polyps and spots syndrome",
          "Peutz Jeghers polyposis",
          "lentiginosis, perioral",
          "periorificial lentiginosis syndrome",
          "polyposis, hamartomatous intestinal",
          "polyps-and-Spots syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008280"
    },
    {
      "id": 9589,
      "label": "Cronkhite-Canada syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6151,
        16103,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6225",
          "GARD:0004427",
          "MEDGEN:129128",
          "MESH:D044483",
          "MedDRA:10062907",
          "NANDO:1200901",
          "NCIT:C7035",
          "NORD:1017",
          "OMIM:175500",
          "Orphanet:2930",
          "SCTID:76304001",
          "UMLS:C0282207",
          "icd11.foundation:79007466"
        ],
        "synonyms": [
          "Cronkhite-Canada syndrome",
          "gastric Cronkhite Canada polyposis",
          "gastrointestinal polyposis-ectodermal changes syndrome",
          "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome",
          "Cronkhite-Canada disease",
          "polyposis skin pigmentation alopecia fingernail changes",
          "polyposis, skin pigmentation, alopecia, and fingernail changes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008283"
    },
    {
      "id": 12149,
      "label": "hereditary mixed polyposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151,
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111684",
          "GARD:0016981",
          "MEDGEN:1672870",
          "MESH:C563365",
          "OMIMPS:601228",
          "Orphanet:157794",
          "UMLS:C5192681",
          "icd11.foundation:219068911"
        ],
        "synonyms": [
          "HMPS",
          "hereditary mixed polyposis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011023"
    },
    {
      "id": 16339,
      "label": "hyperplastic polyposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151,
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016982",
          "MEDGEN:1645454",
          "NCIT:C165469",
          "Orphanet:157798",
          "SCTID:763536006",
          "UMLS:C4296896",
          "icd11.foundation:1344352020"
        ],
        "synonyms": [
          "serrated polyposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015524"
    },
    {
      "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"
    },
    {
      "id": 20300,
      "label": "classic or attenuated familial adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025283"
        ],
        "synonyms": [
          "classic or attenuated FAP",
          "classic or attenuated familial adenomatous polyposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021057"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    }
  ]
}