{
  "id": 13855,
  "label": "Coats plus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012815",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020247"
    },
    {
      "id": 23885,
      "label": "telomere syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026060",
          "MEDGEN:1668986",
          "NCIT:C152065",
          "UMLS:C4727832"
        ],
        "synonyms": [
          "STS",
          "short telomere syndrome"
        ],
        "definition": "Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100137"
    }
  ],
  "children": [
    {
      "id": 16002,
      "label": "cerebroretinal microangiopathy with calcifications and cysts 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13855
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015026"
    },
    {
      "id": 21509,
      "label": "cerebroretinal microangiopathy with calcifications and cysts 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13855
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018441",
          "MEDGEN:1636142",
          "OMIM:612199",
          "UMLS:C4552029"
        ],
        "synonyms": [
          "cerebroretinal microangiopathy with calcifications and cysts",
          "CTC1 Coats plus syndrome",
          "Coats plus syndrome caused by mutation in CTC1",
          "cerebroretinal microangiopathy with calcifications and cysts 1",
          "CRMCC1",
          "Coats plus syndrome",
          "Crmcc"
        ],
        "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 CTC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024564"
    },
    {
      "id": 25632,
      "label": "cerebroretinal microangiopathy with calcifications and cysts 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13855
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026803",
          "MEDGEN:1841133",
          "OMIM:620368",
          "UMLS:C5830497"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957264"
    }
  ],
  "roots": [
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    },
    {
      "id": 23885,
      "label": "telomere syndrome"
    }
  ]
}