{
  "id": 9792,
  "label": "Sturge-Weber syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008501",
  "properties": {
    "xrefs": [
      "DOID:0111563",
      "GARD:0007706",
      "ICD9:759.6",
      "MEDGEN:21361",
      "MESH:D013341",
      "MedDRA:10042265",
      "MedDRA:10057653",
      "NANDO:1200606",
      "NANDO:2200830",
      "NCIT:C3391",
      "NORD:1741",
      "OMIM:185300",
      "Orphanet:3205",
      "SCTID:19886006",
      "UMLS:C0038505",
      "icd11.foundation:1173035836"
    ],
    "synonyms": [
      "SWS",
      "Sturge Weber Syndrome",
      "Sturge Weber syndrome",
      "Sturge-Weber disease",
      "Sturge-Weber syndrome",
      "Sturge-Weber syndrome, somatic, mosaic",
      "Sturge-Weber-Dimitri syndrome",
      "Sturge-Weber-Krabbe angiomatosis",
      "Sturge-Weber-Krabbe syndrome",
      "encephalofacial angiomatosis",
      "encephalotrigeminal angiomatosis",
      "encephalotrigeminal syndrome",
      "SWS type I - Facial and leptomeningeal angiomas",
      "SWS type II - Facial angioma alone, no CNS involvement",
      "SWS type III - isolated leptomeningeal angiomas",
      "fourth phacomatosis",
      "leptomeningeal angiomatosis",
      "meningeal capillary angiomatosis"
    ],
    "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": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies."
  },
  "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": 23107,
      "label": "neurocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82706",
          "MESH:D020752",
          "NANDO:2100220",
          "NCIT:C84348",
          "SCTID:78572006",
          "UMLS:C0265316"
        ],
        "synonyms": [
          "neurocutaneous syndrome",
          "Phacomatoses",
          "Phacomatosis",
          "Phakomatoses",
          "neurocutaneous disorder",
          "neurocutaneous disorders",
          "neuroectodermal dysplasia",
          "neuroectodermal dysplasia syndrome",
          "neuroectodermal dysplasia syndromes",
          "phakomatosis",
          "syndrome, neurocutaneous",
          "syndrome, neuroectodermal dysplasia",
          "syndromes, neurocutaneous",
          "syndromes, neuroectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."
      },
      "child_count": 9,
      "reference_id": "MONDO:0042983"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 23107,
      "label": "neurocutaneous syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}