{
  "id": 13137,
  "label": "congenital generalized lipodystrophy type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012071",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8021,
      "label": "congenital generalized lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        21769
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0006536"
    },
    {
      "id": 18814,
      "label": "Berardinelli-Seip congenital lipodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19731,
        20383
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018883"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8021,
      "label": "congenital generalized lipodystrophy"
    },
    {
      "id": 18814,
      "label": "Berardinelli-Seip congenital lipodystrophy"
    }
  ]
}