{
  "id": 24728,
  "label": "HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700354",
  "properties": {
    "xrefs": [
      "GARD:0028026"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 25027,
      "label": "syndromic complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027071"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800439"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    },
    {
      "id": 25027,
      "label": "syndromic complex neurodevelopmental disorder"
    }
  ]
}