{
  "id": 16508,
  "label": "6q16 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015749",
  "properties": {
    "xrefs": [
      "GARD:0020126",
      "MEDGEN:1759989",
      "Orphanet:171829",
      "UMLS:C5438727"
    ],
    "synonyms": [
      "Del(6)(q16)",
      "Prader-Willi-like syndrome due to deletion 6q16",
      "monosomy 6q16"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18437,
      "label": "Prader-Willi-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16088,
        16526,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021641",
          "MEDGEN:816207",
          "Orphanet:398073",
          "UMLS:C3809877"
        ],
        "synonyms": [
          "PWS-like"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018354"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17324,
      "label": "partial deletion of the long arm of chromosome 6"
    },
    {
      "id": 18437,
      "label": "Prader-Willi-like syndrome"
    }
  ]
}