{
  "id": 9257,
  "label": "Bannayan-Riley-Ruvalcaba syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007924",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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"
    },
    {
      "id": 17900,
      "label": "PTEN hamartoma tumor syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16218,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080191",
          "GARD:0012800",
          "MEDGEN:368366",
          "NCIT:C179915",
          "NORD:1631",
          "Orphanet:306498",
          "SCTID:722859001",
          "UMLS:C1959582"
        ],
        "synonyms": [
          "PHTS",
          "PTEN hamartoma tumor syndrome",
          "PTEN-related Hamartoma tumor syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017623"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16103,
      "label": "intestinal polyposis syndrome"
    },
    {
      "id": 17900,
      "label": "PTEN hamartoma tumor syndrome"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}