{
  "id": 24160,
  "label": "ACTB-associated syndromic thrombocytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100433",
  "properties": {
    "xrefs": [
      "GARD:0026211",
      "MEDGEN:1851006",
      "OMIM:620475",
      "Orphanet:674653",
      "UMLS:C5882677"
    ],
    "synonyms": [
      "ACTB-AST",
      "thrombocytopenia 8, with dysmorphic features and developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    }
  ]
}