{
  "id": 15414,
  "label": "hyperlipoproteinemia, type 1D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014412",
  "properties": {
    "xrefs": [
      "DOID:0111420",
      "GARD:0017973",
      "MEDGEN:863204",
      "OMIM:615947",
      "Orphanet:535458",
      "UMLS:C4014767"
    ],
    "synonyms": [
      "GPIHBP1 familial hyperlipidemia",
      "familial hyperlipidemia caused by mutation in GPIHBP1",
      "hyperlipoproteinemia, type 1D",
      "hyperlipoproteinemia, type ID"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3564,
      "label": "familial hyperlipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        20414
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1168",
          "GARD:0022924",
          "MEDGEN:675194",
          "NANDO:2200603",
          "UMLS:C0700623"
        ],
        "synonyms": [
          "hyperlipemia",
          "hyperlipidaemia",
          "hereditary hyperlipidemia (disease)",
          "familial hyperlipemia",
          "familial hyperlipoproteinemia"
        ],
        "definition": "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001336"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18634,
      "label": "familial chylomicronemia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111417",
          "GARD:0006414",
          "MEDGEN:1778100",
          "Orphanet:444490",
          "UMLS:C5442313"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018637"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3564,
      "label": "familial hyperlipidemia"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18634,
      "label": "familial chylomicronemia syndrome"
    }
  ]
}