{
  "id": 17900,
  "label": "PTEN hamartoma tumor syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017623",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "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": 9624,
      "label": "Proteus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17900,
        18360,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13482",
          "GARD:0007475",
          "ICD9:759.89",
          "MEDGEN:39008",
          "MESH:D016715",
          "NCIT:C85032",
          "NORD:1622",
          "OMIM:176920",
          "Orphanet:744",
          "SCTID:23150001",
          "UMLS:C0085261",
          "icd11.foundation:760267333"
        ],
        "synonyms": [
          "Proteus syndrome",
          "Wiedemann's syndrome",
          "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome",
          "proteus syndrome, somatic",
          "Elattoproteus syndrome",
          "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly",
          "hemihypertrophy and macrocephaly",
          "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008318"
    },
    {
      "id": 16174,
      "label": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6801,
        17900,
        19480,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019881",
          "MEDGEN:1637405",
          "Orphanet:137608",
          "SCTID:763867001",
          "UMLS:C4706610"
        ],
        "synonyms": [
          "SOLAMEN syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015293"
    },
    {
      "id": 17852,
      "label": "Proteus-like syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4198,
        17900
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012801",
          "MEDGEN:356222",
          "NCIT:C179930",
          "Orphanet:2969",
          "SCTID:716862002",
          "UMLS:C1866398"
        ],
        "synonyms": [
          "Cohen-Hayden syndrome",
          "Proteus like syndrome intellectual disability eye defect",
          "Proteus like syndrome mental retardation eye defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017571"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}