{
  "id": 26520,
  "label": "TFAP2B-related congenital heart disease spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010098",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7116,
      "label": "congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967,
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1682",
          "EFO:0005207",
          "ICD9:746.84",
          "ICD9:746.89",
          "ICD9:746.9",
          "MEDGEN:57501",
          "MESH:D006330",
          "NCIT:C95834",
          "SCTID:13213009",
          "UMLS:C0152021",
          "icd11.foundation:2004408087"
        ],
        "synonyms": [
          "heart malformation",
          "congenital anomaly of heart",
          "congenital heart defect",
          "congenital heart defects",
          "Abnormality, heart",
          "abnormalities, heart",
          "defect, congenital heart",
          "defects, congenital heart",
          "heart abnormalities",
          "heart abnormality",
          "heart defect, congenital",
          "heart, malformation Of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
      },
      "child_count": 46,
      "reference_id": "MONDO:0005453"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 9517,
      "label": "Char syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12908,
        16088,
        24336,
        26520
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008209"
    },
    {
      "id": 15860,
      "label": "patent ductus arteriosus 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12908,
        26520
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018489",
          "MEDGEN:924886",
          "OMIM:617035",
          "UMLS:C4284595"
        ],
        "synonyms": [
          "PDA2",
          "patent ductus arteriosus 2",
          "patent ductus arteriosus 2; PDA2",
          "patent ductus arteriosus type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014878"
    }
  ],
  "roots": [
    {
      "id": 7116,
      "label": "congenital heart disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}