{
  "id": 29297,
  "label": "HDAC4-related haploinsufficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060110",
  "properties": {
    "synonyms": [
      "brachydactyly intellectual disability syndrome",
      "brachydactyly mental retardation syndrome",
      "HDAC4-related haploinsufficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A disorder caused by haploinsufficiency of HDAC4 and is characterized by brachydactyly type E, variable mild to moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Individuals with the gain of functions variants typically do not have brachydactyly and do have more consistent intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 25374,
      "label": "neurodevelopmental disorder with central hypotonia and dysmorphic facies",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1807420",
          "OMIM:619797",
          "UMLS:C5676944"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0859232"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 25374,
      "label": "neurodevelopmental disorder with central hypotonia and dysmorphic facies"
    }
  ]
}