{
  "id": 19928,
  "label": "48,XYYY syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020469",
  "properties": {
    "xrefs": [
      "GARD:0011985",
      "MEDGEN:1371767",
      "Orphanet:99329",
      "SCTID:733625003",
      "UMLS:C4518082"
    ],
    "synonyms": [
      "48,XYYY"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 21951,
      "label": "tetrasomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:90710",
          "MESH:D058670",
          "NCIT:C36601",
          "UMLS:C0333689"
        ],
        "definition": "A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number."
      },
      "child_count": 4,
      "reference_id": "MONDO:0030502"
    },
    {
      "id": 24426,
      "label": "chromosome Y disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19717
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome Y is affected."
      },
      "child_count": 7,
      "reference_id": "MONDO:0700028"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 21951,
      "label": "tetrasomy"
    },
    {
      "id": 24426,
      "label": "chromosome Y disorder"
    }
  ]
}