{
  "id": 14261,
  "label": "congenital generalized lipodystrophy type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013225",
  "properties": {
    "xrefs": [
      "DOID:0111138",
      "GARD:0010937",
      "MEDGEN:412871",
      "MESH:C567642",
      "OMIM:613327",
      "Orphanet:228429",
      "UMLS:C2750069"
    ],
    "synonyms": [
      "BSCL4",
      "CAVIN1 congenital generalised lipodystrophy (disease)",
      "CAVIN1 congenital generalized lipodystrophy (disease)",
      "CGL4",
      "GCL4",
      "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1",
      "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1",
      "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy",
      "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy",
      "lipodystrophy, congenital generalized, type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8021,
      "label": "congenital generalized lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        21769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050585",
          "EFO:1000681",
          "GARD:0024436",
          "HP:0009059",
          "MEDGEN:67438",
          "NANDO:1200859",
          "NORD:998",
          "OMIMPS:608594",
          "SCTID:284449005",
          "UMLS:C0221032"
        ],
        "synonyms": [
          "congenital generalised lipodystrophy (disease)",
          "congenital generalized lipodystrophy",
          "congenital generalized lipodystrophy (disease)",
          "familial generalised lipodystrophy",
          "familial generalized lipodystrophy",
          "hereditary generalised lipodystrophy",
          "hereditary generalized lipodystrophy",
          "lipodystrophy, congenital generalised",
          "lipodystrophy, congenital generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues."
      },
      "child_count": 10,
      "reference_id": "MONDO:0006536"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8021,
      "label": "congenital generalized lipodystrophy"
    }
  ]
}