{
  "id": 29326,
  "label": "multiple symmetric lipomatosis with partial lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060153",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9241,
      "label": "multiple symmetric lipomatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3052,
        8054,
        19144,
        21247
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0007908"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9241,
      "label": "multiple symmetric lipomatosis"
    }
  ]
}