{
  "id": 14112,
  "label": "encephalocraniocutaneous lipomatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013074",
  "properties": {
    "xrefs": [
      "GARD:0002108",
      "ICD9:757.8",
      "MEDGEN:140807",
      "MESH:C535736",
      "NCIT:C4701",
      "OMIM:613001",
      "Orphanet:2396",
      "SCTID:238905009",
      "UMLS:C0406612",
      "icd11.foundation:1084215843"
    ],
    "synonyms": [
      "ECCL",
      "Fishman syndrome",
      "Haberland syndrome",
      "encephalocraniocutaneous lipomatosis",
      "encephalocraniocutaneous lipomatosis, somatic mosaic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8054,
      "label": "lipomatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23492
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3153",
          "EFO:1000728",
          "ICD9:272.8",
          "MEDGEN:9781",
          "MESH:D008068",
          "NCIT:C3193",
          "SCTID:402693001",
          "UMLS:C0023801",
          "Wikipedia:Lipomatosis"
        ],
        "synonyms": [
          "Launois-Bensaude syndrome",
          "Madelung disease",
          "Madelung's disease",
          "lipomatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue."
      },
      "child_count": 9,
      "reference_id": "MONDO:0006574"
    },
    {
      "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": 20564,
      "label": "benign neoplasm of skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3052,
        4599
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:216.8",
          "ICD9:216.9",
          "MEDGEN:2197",
          "NCIT:C2896",
          "SCTID:92384009",
          "UMLS:C0004998"
        ],
        "synonyms": [
          "benign cutaneous neoplasm",
          "benign cutaneous tumor",
          "benign cutaneous tumour",
          "benign neoplasm of the skin",
          "benign skin neoplasm",
          "benign skin tumor",
          "benign skin tumour",
          "benign tumor of skin",
          "benign tumor of the skin",
          "benign tumour of skin",
          "benign tumour of the skin",
          "skin neoplasms, benign",
          "zone of skin benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign neoplasm that involves the zone of skin."
      },
      "child_count": 24,
      "reference_id": "MONDO:0021440"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "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": 8054,
      "label": "lipomatosis"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder"
    },
    {
      "id": 20564,
      "label": "benign neoplasm of skin"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}