{
  "id": 8021,
  "label": "congenital generalized lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006536",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 21769,
      "label": "generalized lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080298",
          "GARD:0027920",
          "HP:0009064",
          "MEDGEN:1369615",
          "NCIT:C131815",
          "UMLS:C4317112"
        ],
        "synonyms": [
          "complete generalised lipodystrophy",
          "complete generalized lipodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Almost complete absence of subcutaneous and/or visceral adipose tissue."
      },
      "child_count": 2,
      "reference_id": "MONDO:0027766"
    }
  ],
  "children": [
    {
      "id": 11214,
      "label": "congenital generalized lipodystrophy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8021,
        18814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111136",
          "GARD:0010212",
          "MEDGEN:318593",
          "OMIM:269700",
          "Orphanet:696289",
          "UMLS:C1720863"
        ],
        "synonyms": [
          "BSCL2 congenital generalised lipodystrophy (disease)",
          "BSCL2 congenital generalized lipodystrophy (disease)",
          "CGL2",
          "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2",
          "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2",
          "BSCL2-related Brunzell syndrome",
          "Berardinelli Seip congenital lipodystrophy type 2",
          "Berardinelli syndrome",
          "Berardinelli-Seip congenital lipodystrophy, type 2",
          "Brunzell syndrome, BSCL2-related",
          "Seip syndrome",
          "lipoatrophic diabetes, congenital",
          "lipodystrophy, Berardinelli-Seip congenital, type 2",
          "lipodystrophy, congenital generalized, type 2",
          "lipodystrophy, total, and acromegaloid gigantism"
        ],
        "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 BSCL2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010020"
    },
    {
      "id": 13137,
      "label": "congenital generalized lipodystrophy type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8021,
        18814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111135",
          "GARD:0000084",
          "MEDGEN:318592",
          "OMIM:608594",
          "Orphanet:696189",
          "UMLS:C1720862"
        ],
        "synonyms": [
          "AGPAT2 congenital generalised lipodystrophy (disease)",
          "AGPAT2 congenital generalized lipodystrophy (disease)",
          "BSCL1",
          "Berardinelli-Seip congenital lipodystrophy, type 1",
          "CGL1",
          "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2",
          "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2",
          "congenital generalized lipodystrophy type 1",
          "AGPAT2-related Brunzell syndrome",
          "Berardinelli-Seip congenital lipodystrophy type 1",
          "Brunzell syndrome, AGPAT2-related",
          "lipodystrophy, Berardinelli-Seip congenital, type 1",
          "lipodystrophy, congenital generalized, type 1"
        ],
        "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 AGPAT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012071"
    },
    {
      "id": 13963,
      "label": "congenital generalized lipodystrophy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8021,
        18814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111137",
          "GARD:0013389",
          "MEDGEN:436541",
          "MESH:C567282",
          "OMIM:612526",
          "Orphanet:696206",
          "UMLS:C2675861"
        ],
        "synonyms": [
          "BSCL3",
          "CAV1 congenital generalised lipodystrophy (disease)",
          "CAV1 congenital generalized lipodystrophy (disease)",
          "CGL3",
          "congenital generalised lipodystrophy (disease) caused by mutation in CAV1",
          "congenital generalized lipodystrophy (disease) caused by mutation in CAV1",
          "Berardinelli-Seip congenital lipodystrophy, type 3",
          "lipodystrophy, Berardinelli-Seip congenital, type 3",
          "lipodystrophy, congenital generalized, type 3",
          "type 3 Berardinelli-Seip congenital lipodystrophy"
        ],
        "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 CAV1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012923"
    },
    {
      "id": 14261,
      "label": "congenital generalized lipodystrophy type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8021
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013225"
    },
    {
      "id": 25803,
      "label": "lipodystrophy, congenital generalized, type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026914",
          "MEDGEN:1847991",
          "OMIM:620680",
          "UMLS:C5882745"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958023"
    }
  ],
  "roots": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    },
    {
      "id": 21769,
      "label": "generalized lipodystrophy"
    }
  ]
}