{
  "id": 9517,
  "label": "Char syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008209",
  "properties": {
    "xrefs": [
      "DOID:0060563",
      "GARD:0001237",
      "ICD9:759.89",
      "MEDGEN:358356",
      "MESH:C566815",
      "OMIM:169100",
      "Orphanet:46627",
      "SCTID:703534001",
      "UMLS:C1868570"
    ],
    "synonyms": [
      "Char syndrome",
      "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits",
      "CHAR",
      "CHAR syndrome",
      "Char",
      "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12908,
      "label": "patent ductus arteriosus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7065,
        7116,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13832",
          "GARD:0024824",
          "ICD10CM:Q25.0",
          "ICD9:747.0",
          "MEDGEN:4415",
          "MESH:D004374",
          "NANDO:2100084",
          "NANDO:2200264",
          "NCIT:C84492",
          "OMIMPS:607411",
          "Orphanet:466729",
          "Orphanet:706",
          "SCTID:83330001",
          "UMLS:C0013274",
          "icd11.foundation:1262462321"
        ],
        "synonyms": [
          "PDA",
          "patent ductus arteriosus",
          "patent ductus botalli",
          "persistent patency of the arterial duct",
          "patency of the ductus arteriosus",
          "patent ductus arteriosus familial (type)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure."
      },
      "child_count": 12,
      "reference_id": "MONDO:0011827"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7116
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions."
      },
      "child_count": 16,
      "reference_id": "MONDO:0100614"
    },
    {
      "id": 26520,
      "label": "TFAP2B-related congenital heart disease spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7116,
        24272
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "TFAP2B-related PDA and Char syndrome spectrum disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:1010098"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12908,
      "label": "patent ductus arteriosus"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 24336,
      "label": "syndromic congenital heart disease"
    },
    {
      "id": 26520,
      "label": "TFAP2B-related congenital heart disease spectrum disorder"
    }
  ]
}