{
  "id": 15862,
  "label": "transketolase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014881",
  "properties": {
    "xrefs": [
      "GARD:0017894",
      "MEDGEN:1814561",
      "OMIM:617044",
      "Orphanet:488618",
      "UMLS:C5700245"
    ],
    "synonyms": [
      "TKT deficiency",
      "short stature-developmental delay-congenital heart defect syndrome",
      "SDDHD",
      "short stature, developmental delay, and congenital heart defects"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18607
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018962",
          "MEDGEN:1842861",
          "Orphanet:79186",
          "UMLS:C5681279",
          "icd11.foundation:2067324607"
        ],
        "synonyms": [
          "disorder of pentose phosphate metabolism"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019231"
    },
    {
      "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}