{
  "id": 9956,
  "label": "WAGR syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008681",
  "properties": {
    "xrefs": [
      "DECIPHER:35",
      "DOID:14515",
      "GARD:0005528",
      "MEDGEN:64512",
      "MESH:D017624",
      "NCIT:C3718",
      "NORD:1833",
      "OMIM:194072",
      "Orphanet:893",
      "SCTID:715215007",
      "UMLS:C0206115",
      "icd11.foundation:1858307812"
    ],
    "synonyms": [
      "11p partial monosomy syndrome",
      "Del(11)(p13)",
      "WAGR 11p13 deletion syndrome",
      "WAGR Syndrome/11p Deletion Syndrome",
      "WAGR syndrome",
      "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome",
      "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation",
      "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome",
      "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome",
      "chromosome 11p13 deletion syndrome",
      "deletion 11p13",
      "monosomy 11p13",
      "11p deletion",
      "11p deletion syndrome",
      "11p monosomy",
      "AGR triad",
      "WAGR",
      "WAGR Complex",
      "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome",
      "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome",
      "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome",
      "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome",
      "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome",
      "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome",
      "chromosome 11P13 deletion syndrome",
      "chromosome 11p deletion",
      "chromosome 11p deletion syndrome",
      "deletion 11p",
      "monosomy 11p",
      "partial monosomy 11p"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20011,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019921",
          "MEDGEN:14326",
          "MESH:D009386",
          "NCIT:C3266",
          "Orphanet:140162",
          "SCTID:699346009",
          "UMLS:C0027672"
        ],
        "synonyms": [
          "cancer syndrome, hereditary",
          "cancer syndromes, hereditary",
          "familial neoplastic syndrome",
          "familial tumor syndrome",
          "familial tumour syndrome",
          "hereditary cancer syndrome",
          "hereditary cancer syndromes",
          "hereditary neoplastic syndrome",
          "hereditary neoplastic syndromes",
          "hereditary tumor syndrome",
          "hereditary tumour syndrome",
          "inherited cancer syndrome",
          "inherited cancer-predisposing syndrome",
          "neoplastic syndrome, hereditary",
          "syndrome, hereditary cancer",
          "syndrome, hereditary neoplastic",
          "syndromes, hereditary cancer",
          "syndromes, hereditary neoplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The inherited predisposition toward getting a tumor."
      },
      "child_count": 351,
      "reference_id": "MONDO:0015356"
    },
    {
      "id": 17316,
      "label": "partial deletion of the short arm of chromosome 11",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:419498",
          "Orphanet:261947",
          "UMLS:C2931801",
          "icd11.foundation:127054483"
        ],
        "synonyms": [
          "partial deletion of chromosome 11p",
          "partial deletion of the short arm of chromosome type 11",
          "partial monosomy of chromosome 11p",
          "partial monosomy of the short arm of chromosome 11"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016893"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [
    {
      "id": 13953,
      "label": "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015559",
          "MEDGEN:382718",
          "MESH:C567292",
          "NCIT:C122804",
          "OMIM:612469",
          "UMLS:C2675904"
        ],
        "synonyms": [
          "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome",
          "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome",
          "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome",
          "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome",
          "WAGR syndrome with obesity",
          "WAGRO",
          "Wagro syndrome",
          "chromosome 11P13-p12 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012913"
    }
  ],
  "roots": [
    {
      "id": 16218,
      "label": "hereditary neoplastic syndrome"
    },
    {
      "id": 17316,
      "label": "partial deletion of the short arm of chromosome 11"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}