{
  "id": 19782,
  "label": "Prader-Willi syndrome due to paternal 15q11q13 deletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020301",
  "properties": {
    "xrefs": [
      "GARD:0019576",
      "MEDGEN:1826129",
      "Orphanet:98793",
      "UMLS:C5681699"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 9606,
      "label": "Prader-Willi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16088,
        16526,
        18950,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11983",
          "GARD:0005575",
          "ICD10CM:Q87.11",
          "ICD9:759.81",
          "MEDGEN:46057",
          "MESH:D011218",
          "MedDRA:10036476",
          "NANDO:1200678",
          "NANDO:2200411",
          "NCIT:C75463",
          "NORD:1602",
          "OMIM:176270",
          "Orphanet:739",
          "SCTID:89392001",
          "UMLS:C0032897",
          "icd11.foundation:393773440"
        ],
        "synonyms": [
          "Prader-Labhart-Willi syndrome",
          "Prader-Willi syndrome",
          "Prader-Willi-Labhart syndrome",
          "Willi-Prader syndrome",
          "PWS",
          "Prader-Willi syndrome chromosome region",
          "Prader-Willi-like syndrome associated with chromosome 6",
          "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet",
          "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems."
      },
      "child_count": 35,
      "reference_id": "MONDO:0008300"
    },
    {
      "id": 17332,
      "label": "partial deletion of the long arm of chromosome 15",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:444123",
          "MESH:C538038",
          "Orphanet:262119",
          "UMLS:C2931708"
        ],
        "synonyms": [
          "partial deletion of chromosome 15q",
          "partial deletion of the long arm of chromosome type 15",
          "partial monosomy of chromosome 15q",
          "partial monosomy of the long arm of chromosome 15",
          "15q deletion",
          "15q monosomy",
          "chromosome 15q deletion",
          "deletion 15q",
          "monosomy 15q",
          "partial monosomy 15q"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016913"
    }
  ],
  "children": [
    {
      "id": 16537,
      "label": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19782
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:14",
          "GARD:0020138",
          "MEDGEN:1826083",
          "Orphanet:177901",
          "UMLS:C5680507"
        ],
        "synonyms": [
          "Prader-Willi syndrome (Type 1)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015783"
    },
    {
      "id": 16538,
      "label": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19782
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:53",
          "GARD:0020139",
          "MEDGEN:1826084",
          "Orphanet:177904",
          "UMLS:C5680508"
        ],
        "synonyms": [
          "Prader-Willi Syndrome (Type 2)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015784"
    }
  ],
  "roots": [
    {
      "id": 9606,
      "label": "Prader-Willi syndrome"
    },
    {
      "id": 17332,
      "label": "partial deletion of the long arm of chromosome 15"
    }
  ]
}