{
  "id": 19929,
  "label": "49,XYYYY syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020470",
  "properties": {
    "xrefs": [
      "GARD:0019679",
      "MEDGEN:1384259",
      "Orphanet:99330",
      "SCTID:734028007",
      "UMLS:C4518342"
    ],
    "definition": "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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"
    },
    {
      "id": 24481,
      "label": "pentasomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "definition": "A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700085"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 24426,
      "label": "chromosome Y disorder"
    },
    {
      "id": 24481,
      "label": "pentasomy"
    }
  ]
}