{
  "id": 9624,
  "label": "Proteus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008318",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    },
    {
      "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": 17900,
      "label": "PTEN hamartoma tumor syndrome"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}