{
  "id": 11228,
  "label": "Smith-Lemli-Opitz syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010035",
  "properties": {
    "xrefs": [
      "DOID:14692",
      "GARD:0005683",
      "ICD10CM:E78.72",
      "ICD9:759.89",
      "MEDGEN:61231",
      "MESH:D019082",
      "NANDO:1200961",
      "NANDO:2200979",
      "NCIT:C85071",
      "NORD:1724",
      "OMIM:270400",
      "Orphanet:818",
      "SCTID:43929004",
      "UMLS:C0175694",
      "icd11.foundation:1231469858"
    ],
    "synonyms": [
      "7-dehydrocholesterol reductase deficiency",
      "RSH syndrome",
      "Rutledge lethal multiple congenital anomaly syndrome",
      "SLO syndrome",
      "SLOS",
      "Smith-Lemli-Opitz syndrome",
      "Smith Lemli Opitz syndrome",
      "lethal acrodysgenital syndrome",
      "polydactyly, sex reversal, renal hypoplasia, and unilobar lung",
      "polydactyly, sex reversal, renal hypoplasia, and unilobular lung"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": 23513,
      "label": "cholesterol biosynthetic process disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19104,
        23505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025932",
          "MEDGEN:575241",
          "SCTID:238036004",
          "UMLS:C0342829"
        ],
        "synonyms": [
          "cholesterol synthesis disease",
          "disorder of cholesterol biosynthetic process",
          "disorder of cholesterol synthesis"
        ],
        "definition": "A disease that has its basis in the disruption of cholesterol biosynthetic process."
      },
      "child_count": 6,
      "reference_id": "MONDO:0045017"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 23513,
      "label": "cholesterol biosynthetic process disease"
    }
  ]
}