{
  "id": 9606,
  "label": "Prader-Willi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008300",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080014",
          "ICD10CM:Q90-Q99",
          "ICD9:758.89",
          "MEDGEN:3441",
          "MESH:D025063",
          "NANDO:1100014",
          "NANDO:2100279",
          "NANDO:2100280",
          "NCIT:C34470",
          "Orphanet:68335",
          "SCTID:409709004",
          "UMLS:C0008626"
        ],
        "synonyms": [
          "chromosomal disease",
          "chromosomal disorder",
          "chromosomal disorders",
          "chromosome disorder",
          "disorder, chromosomal",
          "disorder, chromosome",
          "disorders, chromosomal",
          "disorders, chromosome",
          "autosomal chromosome disorder",
          "autosomal chromosome disorders",
          "chromosome abnormality disorder",
          "chromosome abnormality disorders",
          "chromosome disorder, autosomal",
          "chromosome disorders, autosomal",
          "disorder, chromosome abnormality"
        ],
        "definition": "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019040"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 15249,
      "label": "Schaaf-Yang syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9606
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014243"
    },
    {
      "id": 16539,
      "label": "Prader-Willi syndrome due to translocation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017074",
          "MEDGEN:1826085",
          "Orphanet:177907",
          "UMLS:C5680509"
        ],
        "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:0015785"
    },
    {
      "id": 16540,
      "label": "Prader-Willi syndrome due to imprinting mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9606
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017075",
          "MEDGEN:1826086",
          "Orphanet:177910",
          "UMLS:C5680510"
        ],
        "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:0015786"
    },
    {
      "id": 19781,
      "label": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9606,
        24420,
        24482
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020298"
    },
    {
      "id": 19782,
      "label": "Prader-Willi syndrome due to paternal 15q11q13 deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9606,
        17332
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020301"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}