{
  "id": 19617,
  "label": "Kleefstra syndrome due to 9q34 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019896",
  "properties": {
    "xrefs": [
      "DECIPHER:52",
      "GARD:0016846",
      "Orphanet:96147"
    ],
    "synonyms": [
      "9q subtelomeric deletion syndrome",
      "9qSTDS",
      "Kleefstra syndrome due to 9q subtelomeric deletion",
      "Kleefstra syndrome due to del(9)(q34)",
      "Kleefstra syndrome due to monosomy 9q34"
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17327,
      "label": "partial monosomy of the long arm of chromosome 9",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826024",
          "Orphanet:262074",
          "UMLS:C5679677",
          "icd11.foundation:1051626600"
        ],
        "synonyms": [
          "partial deletion of chromosome 9q",
          "partial deletion of the long arm of chromosome 9",
          "partial monosomy of chromosome 9q",
          "partial monosomy of the long arm of chromosome type 9"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016908"
    },
    {
      "id": 21752,
      "label": "Kleefstra syndrome 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        13505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060352",
          "DOID:0070075",
          "GARD:0025497",
          "MEDGEN:208639",
          "MESH:C563043",
          "NCIT:C129976",
          "OMIM:610253",
          "SCTID:724207001",
          "UMLS:C0795833"
        ],
        "synonyms": [
          "9q-syndrome",
          "KLEFS1",
          "Kleefstra syndrome",
          "chromosome 9q34.3 deletion syndrome",
          "Kleefstra syndrome 1"
        ],
        "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3."
      },
      "child_count": 1,
      "reference_id": "MONDO:0027407"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17327,
      "label": "partial monosomy of the long arm of chromosome 9"
    },
    {
      "id": 21752,
      "label": "Kleefstra syndrome 1"
    }
  ]
}