{
  "id": 9239,
  "label": "familial partial lipodystrophy, Dunnigan type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007906",
  "properties": {
    "xrefs": [
      "DOID:0070202",
      "GARD:0003126",
      "MEDGEN:354526",
      "OMIM:151660",
      "Orphanet:2348",
      "SCTID:715439000",
      "UMLS:C1720860",
      "icd11.foundation:2068585355"
    ],
    "synonyms": [
      "Dunnigan syndrome",
      "FPLD2",
      "familial partial lipodystrophy type 2",
      "FPL2",
      "lipodystrophy, familial partial, Dunnigan type",
      "lipodystrophy, familial partial, type 2",
      "lipodystrophy, familial, of limbs and Lower trunk",
      "lipodystrophy, reverse partial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis."
  },
  "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"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19732,
      "label": "familial partial lipodystrophy"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}