{
  "id": 11456,
  "label": "syndromic X-linked intellectual disability Lubs type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010283",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17413,
      "label": "partial duplication of the long arm of chromosome X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005369",
          "MEDGEN:162887",
          "MESH:C536732",
          "Orphanet:263783",
          "UMLS:C0795891"
        ],
        "synonyms": [
          "partial duplication of chromosome Xq",
          "partial duplication of the long arm of chromosome type X",
          "partial trisomy of chromosome Xq",
          "partial trisomy of the long arm of chromosome X",
          "Duplication Xq",
          "Xq duplication",
          "Xq trisomy",
          "chromosome Xq duplication",
          "partial trisomy Xq",
          "trisomy Xq"
        ],
        "definition": "Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017010"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 11596,
      "label": "chromosome Xq28 duplication syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        11456
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0010436"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17413,
      "label": "partial duplication of the long arm of chromosome X"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}