{
  "id": 13138,
  "label": "familial partial lipodystrophy, Kobberling type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012072",
  "properties": {
    "xrefs": [
      "DOID:0070207",
      "GARD:0012598",
      "MEDGEN:318591",
      "OMIM:608600",
      "Orphanet:79084",
      "SCTID:725035001",
      "UMLS:C1720859"
    ],
    "synonyms": [
      "FPLD1",
      "familial partial lipodystrophy type 1",
      "familial partial lipodystrophy type Köbberling",
      "familial partial lipodystrophy, Köbberling type",
      "lipodystrophy, familial partial, Kobberling type",
      "lipodystrophy, familial partial, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19732,
      "label": "familial partial lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        20345,
        21770
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050440",
          "GARD:0011962",
          "MEDGEN:124408",
          "MESH:D052496",
          "NANDO:1200861",
          "NCIT:C84708",
          "NORD:1131",
          "OMIMPS:151660",
          "Orphanet:98306",
          "SCTID:49292002",
          "UMLS:C0271694",
          "icd11.foundation:1661968243"
        ],
        "synonyms": [
          "FPLD",
          "congenital partial lipodystrophy",
          "genetic partial lipodystrophy",
          "lipodystrophy, familial partial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis."
      },
      "child_count": 30,
      "reference_id": "MONDO:0020088"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19732,
      "label": "familial partial lipodystrophy"
    }
  ]
}