{
  "id": 19781,
  "label": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020298",
  "properties": {
    "xrefs": [
      "GARD:0016861",
      "MEDGEN:1826079",
      "Orphanet:98754",
      "UMLS:C5680343"
    ],
    "synonyms": [
      "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15",
      "UPD(15)mat"
    ],
    "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": true,
  "isRoot": false,
  "child_count": 0,
  "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": 24420,
      "label": "chromosome 15 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 15 is affected."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700022"
    },
    {
      "id": 24482,
      "label": "uniparental disomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:181871",
          "MESH:D024182",
          "NCIT:C85215",
          "UMLS:C0949628"
        ],
        "definition": "A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders."
      },
      "child_count": 27,
      "reference_id": "MONDO:0700086"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9606,
      "label": "Prader-Willi syndrome"
    },
    {
      "id": 24420,
      "label": "chromosome 15 disorder"
    },
    {
      "id": 24482,
      "label": "uniparental disomy"
    }
  ]
}