{
  "id": 10696,
  "label": "Baraitser-Winter syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009470",
  "properties": {
    "xrefs": [
      "DOID:0081112",
      "GARD:0015189",
      "MEDGEN:340943",
      "OMIM:243310",
      "UMLS:C1855722"
    ],
    "synonyms": [
      "ACTB Baraitser-Winter cerebrofrontofacial syndrome",
      "ACTB-related BAFopathy",
      "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB",
      "Baraitser-Winter syndrome 1",
      "Baraitser-Winter syndrome type 1",
      "Fryns-Aftimos syndrome",
      "cerebrofrontofacial syndrome",
      "BRWS1",
      "Baraitser-WINTER syndrome 1",
      "cerebrooculofacial lymphatic syndrome",
      "chromosome 7P22 deletion syndrome",
      "intellectual disability with epilepsy and characteristic facies",
      "iris coloboma with ptosis, hypertelorism, and intellectual disability",
      "iris coloboma with ptosis, hypertelorism, and mental retardation",
      "mental retardation with epilepsy and characteristic facies",
      "pachygyria, intellectual disability, epilepsy, and characteristic facies",
      "pachygyria, mental retardation, epilepsy, and characteristic facies"
    ],
    "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 ACTB 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"
    },
    {
      "id": 24515,
      "label": "BAFopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Disorder caused by mutations in the various subunits composing the BAF complex."
      },
      "child_count": 15,
      "reference_id": "MONDO:0700120"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17860,
      "label": "Baraitser-Winter cerebrofrontofacial syndrome"
    },
    {
      "id": 24515,
      "label": "BAFopathy"
    }
  ]
}