{
  "id": 19040,
  "label": "6q terminal deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019164",
  "properties": {
    "xrefs": [
      "GARD:0018931",
      "MEDGEN:930183",
      "Orphanet:75857",
      "SCTID:719666002",
      "UMLS:C4304514"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17324,
      "label": "partial deletion of the long arm of chromosome 6",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17296
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162772",
          "MESH:C537807",
          "Orphanet:262047",
          "UMLS:C0795816",
          "icd11.foundation:41692353"
        ],
        "synonyms": [
          "partial deletion of chromosome 6q",
          "partial deletion of the long arm of chromosome type 6",
          "partial monosomy of chromosome 6q",
          "partial monosomy of the long arm of chromosome 6",
          "6q deletion",
          "6q monosomy",
          "chromosome 6q deletion",
          "deletion 6q",
          "monosomy 6q",
          "partial monosomy 6q"
        ],
        "definition": "Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016905"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17324,
      "label": "partial deletion of the long arm of chromosome 6"
    }
  ]
}