{
  "id": 18814,
  "label": "Berardinelli-Seip congenital lipodystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018883",
  "properties": {
    "xrefs": [
      "GARD:0013388",
      "ICD9:250.80",
      "MedDRA:10024603",
      "NANDO:1200859",
      "NANDO:2200465",
      "NCIT:C84594",
      "Orphanet:528",
      "icd11.foundation:1628738474",
      "icd11.foundation:641763399"
    ],
    "synonyms": [
      "BSCL",
      "Beradinelli-Seip syndrome",
      "Berardinelli Seip syndrome",
      "Berardinelli lipodystrophy syndrome",
      "Brunzell syndrome",
      "GCL",
      "Seip-Bernardinelli syndrome",
      "generalised congenital lipodystrophy",
      "generalized congenital lipodystrophy",
      "total lipodystrophy",
      "Lawrence-Seip syndrome",
      "congenital generalised lipodystrophy",
      "congenital generalized lipodystrophy",
      "lipoatrophic diabetes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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": [
    {
      "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": 26274,
      "label": "PPARG-associated congenital generalized lipodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:696242"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979300"
    }
  ],
  "roots": [
    {
      "id": 19731,
      "label": "hereditary lipodystrophy"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}