{
  "id": 19732,
  "label": "familial partial lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020088",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8053,
        18954,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012597",
          "MEDGEN:1383706",
          "Orphanet:98305",
          "SCTID:724841000",
          "UMLS:C4511302",
          "icd11.foundation:1166232738"
        ],
        "synonyms": [
          "genetic lipodystrophy",
          "genetic lipodystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of lipodystrophy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020087"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    },
    {
      "id": 21770,
      "label": "partial lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080299",
          "GARD:0027921",
          "MEDGEN:1386287",
          "NCIT:C131296",
          "UMLS:C4316789"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body."
      },
      "child_count": 2,
      "reference_id": "MONDO:0027767"
    }
  ],
  "children": [
    {
      "id": 9239,
      "label": "familial partial lipodystrophy, Dunnigan type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732,
        20383
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007906"
    },
    {
      "id": 12552,
      "label": "PPARG-related familial partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070204",
          "GARD:0012600",
          "MEDGEN:328393",
          "OMIM:604367",
          "Orphanet:79083",
          "UMLS:C1720861"
        ],
        "synonyms": [
          "FPLD3",
          "PPARG-related FPLD",
          "familial partial lipodystrophy type 3",
          "familial partial lipodystrophy associated with PPARG mutations",
          "insulin resistance, severe, digenic",
          "lipodystrophy, familial partial, associated with Pparg mutations",
          "lipodystrophy, familial partial, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011448"
    },
    {
      "id": 13138,
      "label": "familial partial lipodystrophy, Kobberling type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012072"
    },
    {
      "id": 14509,
      "label": "PLIN1-related familial partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070205",
          "GARD:0012601",
          "MEDGEN:1675945",
          "OMIM:613877",
          "Orphanet:280356",
          "UMLS:C5191005"
        ],
        "synonyms": [
          "FPLD4",
          "PLIN1-related FPLD",
          "FPLD due to PLIN1 mutations",
          "familial partial lipodystrophy associated with PLIN1 mutations",
          "familial partial lipodystrophy type 4",
          "lipodystrophy, familial partial, associated with Plin1 mutations",
          "lipodystrophy, familial partial, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013478"
    },
    {
      "id": 15107,
      "label": "CIDEC-related familial partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070203",
          "GARD:0013125",
          "MEDGEN:815270",
          "OMIM:615238",
          "Orphanet:435651",
          "UMLS:C3808940"
        ],
        "synonyms": [
          "CIDEC-related FPLD",
          "CIDEC-related familial partial lipodystrophy",
          "FPLD5",
          "lipodystrophy, familial partial, associated with Cidec mutations",
          "lipodystrophy, familial partial, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014098"
    },
    {
      "id": 15431,
      "label": "LIPE-related familial partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3144,
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070206",
          "GARD:0013126",
          "MEDGEN:863306",
          "OMIM:615980",
          "Orphanet:435660",
          "UMLS:C4014869"
        ],
        "synonyms": [
          "FPLD6",
          "LIPE-related FPLD",
          "familial partial lipodystrophy type 6",
          "lipodystrophy, familial partial, associated with Lipe mutations",
          "lipodystrophy, familial partial, type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014431"
    },
    {
      "id": 17569,
      "label": "autosomal semi-dominant severe lipodystrophic laminopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021080",
          "MEDGEN:1808090",
          "Orphanet:280365",
          "UMLS:C5680783"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017230"
    },
    {
      "id": 19062,
      "label": "AKT2-related familial partial lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012599",
          "MEDGEN:1810936",
          "Orphanet:79085",
          "UMLS:C5680134"
        ],
        "synonyms": [
          "AKT2-related FPLD",
          "familial partial lipodystrophy due to AKT2 mutations"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019192"
    },
    {
      "id": 25802,
      "label": "lipodystrophy, familial partial, type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026913",
          "MEDGEN:1846436",
          "OMIM:620679",
          "UMLS:C5882744"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958022"
    },
    {
      "id": 25805,
      "label": "lipodystrophy, familial partial, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026915",
          "MEDGEN:1845936",
          "OMIM:620683",
          "Orphanet:686999",
          "UMLS:C5882746"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958034"
    }
  ],
  "roots": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    },
    {
      "id": 21770,
      "label": "partial lipodystrophy"
    }
  ]
}