{
  "id": 16174,
  "label": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015293",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6801,
      "label": "melanocytic nevus"
    },
    {
      "id": 17900,
      "label": "PTEN hamartoma tumor syndrome"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}