{
  "id": 13505,
  "label": "Kleefstra syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012455",
  "properties": {
    "xrefs": [
      "DOID:0080597",
      "GARD:0008672",
      "MEDGEN:1684615",
      "NANDO:1200959",
      "NORD:184097",
      "OMIMPS:610253",
      "Orphanet:261494",
      "UMLS:C4551771",
      "icd11.foundation:1997337437"
    ],
    "synonyms": [
      "9Q subtelomeric deletion syndrome",
      "9Q- syndrome",
      "9q-syndrome",
      "9q34 deletion syndrome",
      "9q34.3 microdeletion syndrome",
      "Kleefstra syndrome",
      "chromosome 9Q34.3 deletion syndrome",
      "chromosome 9q deletion syndrome"
    ],
    "definition": "A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 17290,
      "label": "Kleefstra syndrome due to a point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017253",
          "MEDGEN:1826146",
          "Orphanet:261652",
          "UMLS:C5680724"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016865"
    },
    {
      "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"
    },
    {
      "id": 23588,
      "label": "Kleefstra syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080598",
          "GARD:0018382",
          "MEDGEN:1623903",
          "OMIM:617768",
          "UMLS:C4540395"
        ],
        "synonyms": [
          "Kleefstra syndrome 2",
          "KLEFS2"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054701"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}