{
  "id": 14076,
  "label": "CLOVES syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013038",
  "properties": {
    "xrefs": [
      "DOID:0080351",
      "GARD:0010939",
      "MEDGEN:442876",
      "MESH:C567863",
      "NCIT:C177122",
      "NORD:979",
      "OMIM:612918",
      "Orphanet:140944",
      "SCTID:719475006",
      "UMLS:C2752042"
    ],
    "synonyms": [
      "CLOVE syndrome, somatic",
      "CLOVES syndrome",
      "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi",
      "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome",
      "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome",
      "CLOVE syndrome",
      "congenital lipomatous overgrowth - vascular malformation - epidermal nevi",
      "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities",
      "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6801,
      "label": "melanocytic nevus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20564,
        20680
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009675",
          "MEDGEN:14364",
          "MESH:D009506",
          "NCIT:C7570",
          "SCTID:400096001",
          "UMLS:C0027962",
          "Wikipedia:Nevus"
        ],
        "synonyms": [
          "melanocytic Nevus",
          "melanotic Nevus",
          "mole",
          "mole of skin",
          "nevus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin."
      },
      "child_count": 56,
      "reference_id": "MONDO:0005073"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:712397",
          "Orphanet:79382",
          "UMLS:C1290008"
        ],
        "synonyms": [
          "disease of superficial fascia",
          "disease or disorder of superficial fascia",
          "disorder of superficial fascia",
          "superficial fascia disease",
          "superficial fascia disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the superficial fascia."
      },
      "child_count": 19,
      "reference_id": "MONDO:0019296"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027113",
          "MEDGEN:1790024",
          "UMLS:C4728213"
        ],
        "synonyms": [
          "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
        ],
        "definition": "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic"
      },
      "child_count": 5,
      "reference_id": "MONDO:1040002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6801,
      "label": "melanocytic nevus"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum"
    }
  ]
}