{
  "id": 11530,
  "label": "X-linked intellectual disability-retinitis pigmentosa syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010364",
  "properties": {
    "xrefs": [
      "GARD:0008360",
      "MEDGEN:336862",
      "OMIM:300578",
      "Orphanet:85332",
      "SCTID:719808002",
      "UMLS:C1845136"
    ],
    "synonyms": [
      "Aldred syndrome",
      "chromosome xp11.3 deletion syndrome, X-linked recessive",
      "retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion",
      "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)",
      "retinitis pigmentosa and intellectual disability due to monosomy Xp11.3",
      "X-linked mental handicap-retinitis pigmentosa syndrome",
      "chromosome Xp11.3 deletion syndrome",
      "intellectual disability, X-linked, with retinitis pigmentosa",
      "mental retardation, X-linked, with retinitis pigmentosa",
      "nonspecific intellectual disability associated with retinitis pigmentosa",
      "nonspecific mental retardation associated with retinitis pigmentosa"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17409,
      "label": "partial monosomy of the short arm of chromosome X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17408
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826029",
          "Orphanet:263731",
          "UMLS:C5679689"
        ],
        "synonyms": [
          "partial deletion of chromosome Xp",
          "partial deletion of the short arm of chromosome X",
          "partial monosomy of chromosome Xp",
          "partial monosomy of the short arm of chromosome type X"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017004"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 17409,
      "label": "partial monosomy of the short arm of chromosome X"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}