{
  "id": 11596,
  "label": "chromosome Xq28 duplication syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010436",
  "properties": {
    "xrefs": [
      "GARD:0015266",
      "MEDGEN:411727",
      "MESH:C567580",
      "OMIM:300815",
      "UMLS:C2749007"
    ],
    "synonyms": [
      "chromosome Xq28 duplication syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 11456,
      "label": "syndromic X-linked intellectual disability Lubs type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        17413,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:45",
          "DOID:0060799",
          "GARD:0009781",
          "ICD9:758.89",
          "MEDGEN:337496",
          "MESH:C537723",
          "NANDO:2200984",
          "NCIT:C126747",
          "OMIM:300260",
          "Orphanet:1762",
          "SCTID:702816000",
          "UMLS:C1846058"
        ],
        "synonyms": [
          "Lubs X-linked intellectual disability syndrome",
          "Lubs X-linked mental retardation syndrome",
          "MECP2 duplication syndrome",
          "MRXSL",
          "Xq28 (MECP2) duplication",
          "distal duplication Xq",
          "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive",
          "intellectual disability, X-linked, syndromic, Lubs type",
          "intellectual disability, X-linked, with recurrent respiratory infections",
          "mental retardation, X-linked, with recurrent respiratory infections",
          "syndromic X-linked intellectual disability Lubs type",
          "telomeric duplication Xq",
          "Lubs X-linked intellectual disability syndrome (formerly)",
          "Lubs X-linked mental retardation syndrome (formerly)",
          "MECP2 Duplication syndrome",
          "XLMR syndrome, Lubs type",
          "intellectual disability, X-linked, Lubs type (formerly)",
          "mental retardation, X-linked, Lubs type (formerly)",
          "trisomy Xq28"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010283"
    }
  ],
  "children": [
    {
      "id": 17711,
      "label": "distal Xq28 microduplication syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11596
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:88",
          "GARD:0017350",
          "MEDGEN:1655645",
          "Orphanet:293939",
          "UMLS:C4751127"
        ],
        "synonyms": [
          "Xq28 Microduplication",
          "distal dup(X)q(28)",
          "distal trisomy Xq28"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017404"
    }
  ],
  "roots": [
    {
      "id": 11456,
      "label": "syndromic X-linked intellectual disability Lubs type"
    }
  ]
}