{
  "id": 12338,
  "label": "desmosterolosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011217",
  "properties": {
    "xrefs": [
      "DOID:0070654",
      "GARD:0010283",
      "ICD9:272.8",
      "MEDGEN:400801",
      "MESH:C566555",
      "OMIM:602398",
      "Orphanet:35107",
      "SCTID:709490002",
      "UMLS:C1865596",
      "icd11.foundation:2108931494"
    ],
    "synonyms": [
      "desmosterolosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19477,
      "label": "neonatal osteosclerotic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019199",
          "MEDGEN:721998",
          "Orphanet:93443",
          "SCTID:389236000",
          "UMLS:C1300205"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0019702"
    },
    {
      "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": 19477,
      "label": "neonatal osteosclerotic dysplasia"
    },
    {
      "id": 23513,
      "label": "cholesterol biosynthetic process disease"
    }
  ]
}