{
  "id": 13621,
  "label": "Potocki-Lupski syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012574",
  "properties": {
    "xrefs": [
      "DECIPHER:19",
      "DOID:0060853",
      "GARD:0010145",
      "MEDGEN:444010",
      "NCIT:C124846",
      "OMIM:610883",
      "Orphanet:1713",
      "SCTID:734016004",
      "UMLS:C2931246",
      "icd11.foundation:1720095972"
    ],
    "synonyms": [
      "17p11.2 Duplication syndrome",
      "17p11.2 microduplication syndrome",
      "Potocki-Lupski syndrome",
      "Potocki-Lupski syndrome, Isolated cases",
      "chromosome 17p11.2 duplication syndrome",
      "trisomy 17p11.2",
      "Duplication 17p11.2 syndrome",
      "PTLS",
      "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))",
      "chromosome 17P11.2 Duplication syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated."
  },
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 17365,
      "label": "partial duplication of the short arm of chromosome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17351
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826039",
          "Orphanet:262803",
          "UMLS:C5679714",
          "icd11.foundation:1672849162"
        ],
        "synonyms": [
          "partial duplication of chromosome 17p",
          "partial duplication of the short arm of chromosome type 17",
          "partial trisomy of chromosome 17p",
          "partial trisomy of the short arm of chromosome 17"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016950"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17365,
      "label": "partial duplication of the short arm of chromosome 17"
    }
  ]
}