{
  "id": 10128,
  "label": "sitosterolemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008863",
  "properties": {
    "xrefs": [
      "DOID:0090019",
      "GARD:0007653",
      "MEDGEN:87466",
      "MESH:C537345",
      "MedDRA:10063985",
      "NANDO:1200853",
      "NCIT:C125694",
      "NORD:1911",
      "OMIMPS:210250",
      "OMIMPS:215250",
      "Orphanet:101022",
      "Orphanet:2882",
      "SCTID:238104009",
      "UMLS:C0342907"
    ],
    "synonyms": [
      "phytosterolemia",
      "sitosterolemia",
      "STSL",
      "macrothrombocytopenia/stomatocytosis, Mediterranean",
      "plant sterol storage disease",
      "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 20150,
      "label": "sitosterolemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070634",
          "GARD:0025235",
          "MEDGEN:440869",
          "OMIM:210250",
          "UMLS:C2749759"
        ],
        "synonyms": [
          "STSL1",
          "sitosterolemia 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020747"
    },
    {
      "id": 20151,
      "label": "sitosterolemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060983",
          "GARD:0016372",
          "MEDGEN:1684715",
          "OMIM:618666",
          "UMLS:C5231453"
        ],
        "synonyms": [
          "STSL2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020748"
    }
  ],
  "roots": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    }
  ]
}