{
  "id": 17860,
  "label": "Baraitser-Winter cerebrofrontofacial syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017579",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        20383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050453",
          "GARD:0012291",
          "HP:0001339",
          "MEDGEN:78604",
          "MESH:D054082",
          "MedDRA:10048911",
          "NANDO:1200574",
          "NANDO:2200817",
          "NCIT:C103921",
          "NORD:1374",
          "OMIMPS:607432",
          "Orphanet:48471",
          "SCTID:204036008",
          "UMLS:C0266463"
        ],
        "synonyms": [
          "Lissencephaly",
          "lissencephaly",
          "lissencephaly (disease)",
          "lissencephaly spectrum disorders",
          "Broad gyri of cerebrum",
          "large gyri of cerebrum",
          "macrogyria",
          "pachygyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018838"
    }
  ],
  "children": [
    {
      "id": 10696,
      "label": "Baraitser-Winter syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17860,
        24515
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009470"
    },
    {
      "id": 14827,
      "label": "Baraitser-winter syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17860
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013812"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18774,
      "label": "lissencephaly spectrum disorders"
    }
  ]
}