{
  "id": 9241,
  "label": "multiple symmetric lipomatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007908",
  "properties": {
    "xrefs": [
      "DOID:14116",
      "EFO:1000737",
      "GARD:0006957",
      "MEDGEN:7349",
      "NCIT:C4392",
      "NORD:1392",
      "OMIM:151800",
      "Orphanet:2398",
      "SCTID:238902007",
      "UMLS:C0023804"
    ],
    "synonyms": [
      "Madelung disease",
      "Launois-Bensaude lipomatosis",
      "Madelung's Disease",
      "cephalothoracic lipodystrophy",
      "cervical symmetrical lipomatosis",
      "familial benign cervical lipomatosis",
      "lipodystrophy, cephalothoracic",
      "lipomatosis, familial benign cervical",
      "multiple symmetric lipomatosis",
      "multiple symmetrical lipomatosis",
      "Launois-Bensaude syndrome",
      "MSL",
      "Madelung's disease",
      "benign symmetrical lipomatosis",
      "familial symmetric lipomatosis",
      "lipomatosis, multiple symmetric"
    ],
    "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 subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 3052,
      "label": "integumentary system benign neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        6887
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060121"
        ],
        "synonyms": [
          "integumental system benign neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A benign neoplasm that involves the integumental system."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000652"
    },
    {
      "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": 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"
    }
  ],
  "children": [
    {
      "id": 29326,
      "label": "multiple symmetric lipomatosis with partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028166"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A form of multiple symmetric lipomatosis accompanied by partial lipodystrophy (loss of subcutaneous fat in other regions), with or without peripheral neuropathy. Nearly all reported cases have been observed in individuals who are homozygous for the p.Arg707Trp variant in the MFN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060153"
    }
  ],
  "roots": [
    {
      "id": 3052,
      "label": "integumentary system benign neoplasm"
    },
    {
      "id": 8054,
      "label": "lipomatosis"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}