{
  "id": 11853,
  "label": "TARP syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010711",
  "properties": {
    "xrefs": [
      "DOID:0111780",
      "GARD:0010089",
      "MEDGEN:333324",
      "MESH:C536942",
      "OMIM:311900",
      "Orphanet:2886",
      "SCTID:725911008",
      "UMLS:C1839463"
    ],
    "synonyms": [
      "Pierre Robin sequence-congenital heart defect-talipes syndrome",
      "Pierre Robin syndrome-congenital heart defect-talipes syndrome",
      "TARP syndrome, X-linked recessive",
      "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome",
      "tarp syndrome",
      "Pierre Robin sequence - congenital heart defect - talipes",
      "Pierre Robin syndrome - congenital heart defect - talipes",
      "Pierre Robin syndrome with congenital heart malformation and clubfoot",
      "TARPS",
      "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava",
      "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}