{
  "id": 16002,
  "label": "cerebroretinal microangiopathy with calcifications and cysts 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015026",
  "properties": {
    "xrefs": [
      "GARD:0018442",
      "MEDGEN:1390862",
      "OMIM:617341",
      "UMLS:C4479220"
    ],
    "synonyms": [
      "Coats plus syndrome caused by mutation in STN1",
      "STN1 Coats plus syndrome",
      "cerebroretinal microangiopathy with calcifications and cysts 2",
      "cerebroretinal microangiopathy with calcifications and cysts type 2",
      "CRMCC2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13855,
      "label": "Coats plus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19767,
        23885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017412",
          "ICD9:348.89",
          "MEDGEN:383079",
          "MESH:C567401",
          "OMIMPS:612199",
          "Orphanet:313838",
          "SCTID:711482008",
          "UMLS:C2677299"
        ],
        "synonyms": [
          "CRMCC",
          "cerebroretinal microangiopathy with calcfications and cysts",
          "cerebroretinal microangiopathy with calcifications and cysts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease."
      },
      "child_count": 6,
      "reference_id": "MONDO:0012815"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13855,
      "label": "Coats plus syndrome"
    }
  ]
}