{
  "id": 15249,
  "label": "Schaaf-Yang syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014243",
  "properties": {
    "xrefs": [
      "DOID:0111715",
      "GARD:0013316",
      "MEDGEN:1807366",
      "MESH:C535385",
      "OMIM:208080",
      "OMIM:615547",
      "Orphanet:398069",
      "UMLS:C5575066"
    ],
    "synonyms": [
      "SHFYNG",
      "Schaaf-Yang syndrome",
      "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",
      "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies",
      "Chitayat-Hall syndrome",
      "PWS due to a point mutation",
      "Prader-Willi syndrome due to point mutation",
      "Prader-Willi-like syndrome",
      "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies"
    ],
    "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9606,
      "label": "Prader-Willi syndrome"
    }
  ]
}