{
  "id": 20300,
  "label": "classic or attenuated familial adenomatous polyposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021057",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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": [
    {
      "id": 13109,
      "label": "familial adenomatous polyposis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080410",
          "GARD:0010805",
          "MEDGEN:474474",
          "MESH:C563924",
          "NCIT:C96520",
          "OMIM:608456",
          "Orphanet:247798",
          "UMLS:C3272841"
        ],
        "synonyms": [
          "FAP2",
          "MAP",
          "MUTYH-associated polyposis",
          "MUTYH-related AFAP",
          "MUTYH-related adenomatous polyposis",
          "adenomas, multiple colorectal, autosomal recessive",
          "colorectal adenomatous polyposis, autosomal recessive",
          "familial adenomatous polyposis 2",
          "familial adenomatous polyposis, 2",
          "familial adenomatous polyposis, type 2",
          "MAP syndrome",
          "MYH-associated polyposis",
          "autosomal recessive familial adenomatous polyposis",
          "autosomal recessive multiple colorectal adenomas"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal recessive hereditary cancer predisposition disorder caused by pathogenic variants in the MUTYH gene. It is characterized by an increased risk of colorectal adenomatous polyposis and carcinomas."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012041"
    },
    {
      "id": 15626,
      "label": "familial adenomatous polyposis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080411",
          "GARD:0017790",
          "MEDGEN:902388",
          "OMIM:616415",
          "Orphanet:454840",
          "UMLS:C4225157"
        ],
        "synonyms": [
          "FAP3",
          "NTHL1-related AFAP",
          "NTHL1-related attenuated FAP",
          "NTHL1-related attenuated familial adenomatous polyposis",
          "familial adenomatous polyposis 3",
          "familial adenomatous polyposis type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014630"
    },
    {
      "id": 16895,
      "label": "attenuated familial adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008532",
          "MEDGEN:436213",
          "MESH:C538265",
          "NCIT:C6729",
          "Orphanet:220460",
          "SCTID:715866009",
          "UMLS:C2674616",
          "icd11.foundation:1023083906"
        ],
        "synonyms": [
          "AAPC",
          "AFAP",
          "HFAS",
          "attenuated FAP",
          "attenuated adenomatous polyposis coli",
          "attenuated familial adenomatous polyposis",
          "attenuated familial polyposis coli",
          "hereditary flat adenoma syndrome",
          "mild form of FAP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016362"
    },
    {
      "id": 18475,
      "label": "AXIN2-related attenuated familial adenomatous polyposis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021703",
          "MEDGEN:1826067",
          "Orphanet:401911",
          "UMLS:C5680012"
        ],
        "synonyms": [
          "AXIN2-related AFAP",
          "AXIN2-related attenuated FAP",
          "AXIN2-related attenuated familial polyposis coli"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018426"
    },
    {
      "id": 18645,
      "label": "Polymerase proofreading-related adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017772",
          "MEDGEN:1687472",
          "NCIT:C162484",
          "Orphanet:447877",
          "UMLS:C5202613"
        ],
        "synonyms": [
          "PPAP",
          "Polymerase proofreading-related adenomatous polyposis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0018653"
    },
    {
      "id": 20298,
      "label": "classic familial adenomatous polyposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:49",
          "DOID:0050424",
          "GARD:0006408",
          "ICDO:8220/0",
          "MEDGEN:46010",
          "MedDRA:10056981",
          "NANDO:2200915",
          "NCIT:C3339",
          "NORD:1121",
          "OMIMPS:175100",
          "Orphanet:733",
          "SCTID:72900001",
          "UMLS:C0032580"
        ],
        "synonyms": [
          "FAP",
          "Familial Adenomatous Polyposis",
          "adenomatous polyposis coli",
          "classic FAP",
          "classic familial adenomatous polyposis",
          "colorectal adenomatous polyposis",
          "familial adenomatous polyposis",
          "familial adenomatous polyposis coli",
          "familial adenomatous polyposis syndrome",
          "familial polyposis",
          "familial polyposis coli",
          "hereditary adenomatous polyposis coli",
          "polyposis coli",
          "FPC",
          "familial adenomatous polyposis of the colon",
          "familial multiple polyposis",
          "hereditary polyposis coli"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life."
      },
      "child_count": 3,
      "reference_id": "MONDO:0021055"
    },
    {
      "id": 20299,
      "label": "familial adenomatous polyposis 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080409",
          "GARD:0025282",
          "MEDGEN:398651",
          "OMIM:175100",
          "UMLS:C2713442"
        ],
        "synonyms": [
          "adenomatous polyposis coli",
          "APC-related adenomatous polyposis",
          "FAP1",
          "adenoma, periampullary, somatic",
          "familial adenomatous polyposis 1",
          "Gardner syndrome",
          "adenomatous polyposis coli, attenuated",
          "adenomatous polyposis of the colon",
          "brain tumor-polyposis syndrome 2",
          "familial adenomatous polyposis, attenuated",
          "familial polyposis of the colon",
          "polyposis, adenomatous intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP)."
      },
      "child_count": 1,
      "reference_id": "MONDO:0021056"
    },
    {
      "id": 23304,
      "label": "familial adenomatous polyposis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20300
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080412",
          "GARD:0017868",
          "MEDGEN:934686",
          "OMIM:617100",
          "Orphanet:480536",
          "UMLS:C4310719"
        ],
        "synonyms": [
          "FAP4",
          "MSH3-related AFAP",
          "MSH3-related attenuated FAP",
          "MSH3-related attenuated familial adenomatous polyposis",
          "MSH3-related attenuated familial polyposis coli",
          "familial adenomatous polyposis 4",
          "familial adenomatous polyposis type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044300"
    }
  ],
  "roots": [
    {
      "id": 16103,
      "label": "intestinal polyposis syndrome"
    }
  ]
}