{
  "id": 19943,
  "label": "atypical progressive supranuclear palsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020488",
  "properties": {
    "xrefs": [
      "GARD:0004507",
      "MEDGEN:1779597",
      "Orphanet:99750",
      "UMLS:C5548371"
    ],
    "synonyms": [
      "atypical PSP syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 18949,
      "label": "progressive supranuclear palsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7073,
        19772,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:678",
          "GARD:0007471",
          "ICD10CM:G23.1",
          "ICD9:333.0",
          "MEDGEN:21026",
          "MESH:D013494",
          "MedDRA:10036813",
          "NANDO:1200009",
          "NCIT:C85028",
          "NORD:1619",
          "OMIMPS:601104",
          "Orphanet:683",
          "SCTID:192976002",
          "SCTID:28978003",
          "UMLS:C0038868",
          "icd11.foundation:1493396558"
        ],
        "synonyms": [
          "PSP syndrome",
          "Steele-Richardson-Olszewski disease",
          "Steele-Richardson-Olszewski syndrome",
          "progressive supranuclear ophthalmoplegia",
          "familial progressive supranuclear palsy (type)",
          "supranuclear palsy, progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019037"
    }
  ],
  "children": [
    {
      "id": 11042,
      "label": "progressive supranuclear palsy-parkinsonism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017183",
          "MEDGEN:342410",
          "MESH:C537240",
          "OMIM:260540",
          "Orphanet:240085",
          "UMLS:C1850077"
        ],
        "synonyms": [
          "PSP-p",
          "PSP-parkinsonism",
          "supranuclear palsy, progressive atypical",
          "Parkinson-dementia syndrome",
          "Steele-Richardson-Olszewski syndrome, atypical",
          "atypical PSP",
          "progressive supranuclear palsy atypical",
          "supranuclear palsy, progressive, 1, atypical"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009839"
    },
    {
      "id": 17057,
      "label": "progressive supranuclear palsy-pure akinesia with gait freezing syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020647",
          "MEDGEN:1843032",
          "Orphanet:240094",
          "UMLS:C5679851"
        ],
        "synonyms": [
          "PSP-PAGF",
          "PSP-pure akinesia with gait freezing"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016562"
    },
    {
      "id": 17058,
      "label": "progressive supranuclear palsy-corticobasal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020648",
          "MEDGEN:1781130",
          "Orphanet:240103",
          "UMLS:C5548189"
        ],
        "synonyms": [
          "PSP-CBS",
          "PSP-corticobasal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016563"
    },
    {
      "id": 17059,
      "label": "progressive supranuclear palsy-progressive non-fluent aphasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19943
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020649",
          "MEDGEN:1842806",
          "Orphanet:240112",
          "UMLS:C5679850"
        ],
        "synonyms": [
          "PSP-AOS",
          "PSP-PNFA",
          "progressive supranuclear palsy-apraxia of speech syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016564"
    }
  ],
  "roots": [
    {
      "id": 18949,
      "label": "progressive supranuclear palsy"
    }
  ]
}