{
  "id": 24253,
  "label": "Hao-Fountain syndrome due to 16p13.2 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100528",
  "properties": {
    "xrefs": [
      "GARD:0017920",
      "MEDGEN:1804697",
      "Orphanet:500055",
      "UMLS:C5680086"
    ],
    "synonyms": [
      "16p13.2 microdeletion syndrome",
      "Del(16)(p13.2)",
      "chromosome 16P13.2 deletion syndrome",
      "chromosome 16p13.2 deletion syndrome",
      "monosomy 16p13.2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15793,
      "label": "Hao-Fountain syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025017",
          "MEDGEN:1719035",
          "NORD:1917",
          "Orphanet:643549",
          "UMLS:C5393908"
        ],
        "synonyms": [
          "HAFOUS",
          "USP7-Related Diseases"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0014805"
    },
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17303
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825967",
          "Orphanet:261956",
          "UMLS:C5679670",
          "icd11.foundation:934406879"
        ],
        "synonyms": [
          "partial deletion of chromosome 16p",
          "partial deletion of the short arm of chromosome type 16",
          "partial monosomy of chromosome 16p",
          "partial monosomy of the short arm of chromosome 16"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016894"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15793,
      "label": "Hao-Fountain syndrome"
    },
    {
      "id": 17317,
      "label": "partial deletion of the short arm of chromosome 16"
    }
  ]
}