{
  "id": 11851,
  "label": "early-onset parkinsonism-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010709",
  "properties": {
    "xrefs": [
      "DOID:0111781",
      "GARD:0003203",
      "MEDGEN:208674",
      "MESH:C537179",
      "OMIM:311510",
      "Orphanet:2379",
      "SCTID:716107009",
      "UMLS:C0796195",
      "icd11.foundation:937544163"
    ],
    "synonyms": [
      "Laxova-Opitz syndrome",
      "Waisman syndrome",
      "Waisman syndrome, X-linked recessive",
      "early-onset parkinsonism-intellectual disability syndrome",
      "BGMR",
      "Laxova Brown hogan syndrome",
      "Parkinsonism, early onset with intellectual disability",
      "Parkinsonism, early onset with mental retardation",
      "Parkinsonism, early-onset, with intellectual disability",
      "Parkinsonism, early-onset, with mental retardation",
      "WAISMAN syndrome",
      "WSMN",
      "Wsn",
      "X-linked recessive basal ganglia disorder with intellectual disability",
      "X-linked recessive basal ganglia disorder with mental retardation",
      "basal ganglia disorder with intellectual disability",
      "basal ganglia disorder with mental retardation",
      "basal ganglion disorder with intellectual disability",
      "basal ganglion disorder with mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 20335,
      "label": "parkinsonian disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5849
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080855",
          "MEDGEN:66079",
          "MESH:D020734",
          "UMLS:C0242422"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
      },
      "child_count": 21,
      "reference_id": "MONDO:0021095"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    },
    {
      "id": 20335,
      "label": "parkinsonian disorder"
    }
  ]
}