{
  "id": 11506,
  "label": "X-linked intellectual disability-cerebellar hypoplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010337",
  "properties": {
    "xrefs": [
      "DOID:0080311",
      "GARD:0009947",
      "MEDGEN:336920",
      "MESH:C537456",
      "OMIM:300486",
      "Orphanet:137831",
      "SCTID:719136005",
      "UMLS:C1845366"
    ],
    "synonyms": [
      "OPHN1 syndrome",
      "Oligophrenin-1 syndrome",
      "X-linked intellectual disability-cerebellar hypoplasia syndrome",
      "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive",
      "MRX60 (formerly)",
      "OPHN1 XLMR",
      "OPHN1 XLMR, X-linked intellectual disability",
      "OPHN1 deficiency",
      "OPHN1- related XLID",
      "X-linked intellectual Deficit with cerebellar Hypoplasia",
      "intellectual disability X-linked 60 (formerly)",
      "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance",
      "intellectual disability, X-linked 60",
      "intellectual disability, X-linked 60, formerly",
      "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance",
      "mental retardation X-linked 60 (formerly)",
      "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance",
      "mental retardation, X-linked 60",
      "mental retardation, X-linked 60, formerly",
      "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "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": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}