{
  "id": 14827,
  "label": "Baraitser-winter syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013812",
  "properties": {
    "xrefs": [
      "DOID:0081113",
      "GARD:0015817",
      "MEDGEN:482865",
      "OMIM:614583",
      "UMLS:C3281235"
    ],
    "synonyms": [
      "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome",
      "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1",
      "Baraitser-Winter syndrome type 2",
      "Baraitser-winter syndrome 2",
      "BRWS2",
      "Baraitser-WINTER syndrome 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17860,
      "label": "Baraitser-Winter cerebrofrontofacial syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16087,
        18774
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060229",
          "GARD:0005279",
          "ICD9:759.89",
          "MEDGEN:340016",
          "OMIMPS:243310",
          "Orphanet:2995",
          "SCTID:702410002",
          "UMLS:C1853623"
        ],
        "synonyms": [
          "Baraitser-Winter syndrome",
          "BRWS",
          "Fryns-Aftimos syndrome",
          "cerebro-frontofacial syndrome, type 3",
          "iris coloboma with ptosis hypertelorism and intellectual disability",
          "iris coloboma with ptosis hypertelorism and mental retardation",
          "trigonocephaly ptosis coloboma",
          "trigonocephaly ptosis intellectual disability",
          "trigonocephaly ptosis mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017579"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17860,
      "label": "Baraitser-Winter cerebrofrontofacial syndrome"
    }
  ]
}