{
  "id": 16361,
  "label": "Huntington disease-like syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015548",
  "properties": {
    "xrefs": [
      "GARD:0020029",
      "ICD9:333.99",
      "MEDGEN:777988",
      "MESH:C580174",
      "Orphanet:158266",
      "SCTID:702376003",
      "UMLS:C3711380"
    ],
    "synonyms": [
      "Huntington disease phenocopy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 2754,
      "label": "Huntington disease and related disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022721"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A grouping for Huntington disease and similar diseases."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000167"
    },
    {
      "id": 16360,
      "label": "hereditary dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020028",
          "MEDGEN:1842422",
          "Orphanet:158124",
          "UMLS:C5680680"
        ],
        "synonyms": [
          "genetic dementia"
        ],
        "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 30,
      "reference_id": "MONDO:0015547"
    }
  ],
  "children": [
    {
      "id": 8589,
      "label": "Machado-Joseph disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1440",
          "GARD:0006801",
          "ICD9:336.8",
          "MEDGEN:9841",
          "MESH:D017827",
          "NANDO:1200041",
          "NCIT:C84830",
          "NORD:1389",
          "OMIM:109150",
          "Orphanet:98757",
          "SCTID:91952008",
          "UMLS:C0024408"
        ],
        "synonyms": [
          "Azorean disease of the nervous system",
          "MJD",
          "Machado disease",
          "Machado-Joseph disease",
          "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia",
          "SCA3",
          "autosomal dominant striatonigral degeneration",
          "spinocerebellar ataxia 3",
          "spinocerebellar ataxia type 3",
          "Azorean neurologic disease",
          "Nigrospinodentatal Degeneration",
          "Spinopontine atrophy",
          "spinocerebellar atrophy 3",
          "spinocerebellar atrophy type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007182"
    },
    {
      "id": 8825,
      "label": "dentatorubral-pallidoluysian atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16361,
        19537
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060162",
          "GARD:0005643",
          "ICD9:333.99",
          "MEDGEN:155630",
          "NANDO:1200043",
          "NCIT:C122653",
          "OMIM:125370",
          "Orphanet:101",
          "SCTID:68116008",
          "UMLS:C0751781"
        ],
        "synonyms": [
          "DRPLA",
          "Dentatorubropallidoluysian atrophy",
          "Naito-Oyanagi disease",
          "dentatorubral-pallidoluysian atrophy",
          "haw River syndrome",
          "NOD",
          "Naito Oyanagi disease",
          "ataxia, chorea, seizures, and dementia",
          "dentatorubral pallidoluysian atrophy",
          "myoclonic epilepsy with choreoathetosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007435"
    },
    {
      "id": 9434,
      "label": "spinocerebellar ataxia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050954",
          "GARD:0004071",
          "MEDGEN:155703",
          "NANDO:1200045",
          "NCIT:C129982",
          "OMIM:164400",
          "Orphanet:98755",
          "SCTID:715748006",
          "UMLS:C0752120",
          "icd11.foundation:2071487961"
        ],
        "synonyms": [
          "ATXN1 autosomal dominant cerebellar ataxia type I",
          "SCA1",
          "Sca1",
          "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1",
          "spinocerebellar ataxia type 1",
          "Menzel type OPCA",
          "OPCA 1",
          "OPCA 4",
          "OPCA1",
          "OPCA4",
          "Schut-haymaker type OPCA",
          "cerebelloparenchymal disorder 1",
          "olivopontocerebellar atrophy 1",
          "olivopontocerebellar atrophy 4",
          "spinocerebellar ataxia 1",
          "spinocerebellar atrophy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008119"
    },
    {
      "id": 9750,
      "label": "spinocerebellar ataxia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6868,
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050955",
          "DOID:0060204",
          "GARD:0004072",
          "MEDGEN:155704",
          "NANDO:1200046",
          "NCIT:C148315",
          "OMIM:183090",
          "Orphanet:98756",
          "SCTID:715751004",
          "UMLS:C0752121",
          "icd11.foundation:1232187870"
        ],
        "synonyms": [
          "ATXN2 autosomal dominant cerebellar ataxia type I",
          "OPCA2",
          "SCA2",
          "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2",
          "spinocerebellar ataxia type 2",
          "ALS13",
          "SCA 2",
          "Wadia swami syndrome",
          "Wadia-swami syndrome",
          "amyotrophic lateral sclerosis 13",
          "amyotrophic lateral sclerosis type 13",
          "amyotrophic lateral sclerosis, susceptibility to, 13",
          "cerebellar Degeneration with slow eye movements",
          "olivopontocerebellar atrophy 2",
          "olivopontocerebellar atrophy Holguin type",
          "olivopontocerebellar atrophy, Holguin type",
          "spinocerebellar Degeneration with slow eye movements",
          "spinocerebellar ataxia 2",
          "spinocerebellar ataxia Cuban type",
          "spinocerebellar ataxia with slow eye movements",
          "spinocerebellar ataxia, Cuban type",
          "spinocerebellar atrophy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008458"
    },
    {
      "id": 12589,
      "label": "Huntington disease-like 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        16361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016986",
          "MEDGEN:347622",
          "MESH:C565747",
          "OMIM:604802",
          "Orphanet:157946",
          "UMLS:C1858114"
        ],
        "synonyms": [
          "HDL3",
          "Huntington disease-like 3",
          "Huntington disease-like type 3",
          "Huntington disease-like neurodegenerative disorder, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011487"
    },
    {
      "id": 12733,
      "label": "neuroferritinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16361,
        17988,
        18404
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110737",
          "GARD:0010686",
          "ICD9:333.0",
          "MEDGEN:381211",
          "MESH:C548080",
          "NANDO:1200539",
          "NANDO:1200542",
          "OMIM:606159",
          "Orphanet:157846",
          "SCTID:699299001",
          "UMLS:C1853578"
        ],
        "synonyms": [
          "NBIA3",
          "adult basal ganglia disease",
          "ferritin-related neurodegeneration",
          "hereditary ferritinopathy",
          "neurodegeneration with brain iron accumulation type 3",
          "neuroferritinopathy",
          "basal ganglia disease adult-onset",
          "basal ganglia disease, adult-onset",
          "neurodegeneration with brain iron accumulation 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011638"
    },
    {
      "id": 12865,
      "label": "spinocerebellar ataxia type 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2729,
        16361,
        19535
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050967",
          "GARD:0010469",
          "MEDGEN:337637",
          "MESH:C563505",
          "MESH:C564616",
          "MESH:C565866",
          "NCIT:C179861",
          "OMIM:164700",
          "OMIM:213100",
          "OMIM:607136",
          "Orphanet:98759",
          "SCTID:719249005",
          "UMLS:C1846707",
          "icd11.foundation:1173627424"
        ],
        "synonyms": [
          "CPD2",
          "HDL4",
          "Huntington disease-like 4",
          "OPCA V",
          "OPCA with dementia and extrapyramidal signs",
          "SCA 17",
          "SCA17",
          "cerebelloparenchymal disorder II",
          "olivopontocerebellar atrophy 5",
          "olivopontocerebellar atrophy type 5",
          "spinocerebellar ataxia 17",
          "spinocerebellar ataxia type 17",
          "CPD, late-onset recessive type",
          "olivopontocerebellar atrophy V"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011781"
    },
    {
      "id": 17399,
      "label": "neuroacanthocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        16361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050765",
          "GARD:0010902",
          "MESH:D054546",
          "NANDO:1200013",
          "NCIT:C84926",
          "NORD:1501",
          "Orphanet:263440",
          "icd11.foundation:1012724153"
        ],
        "synonyms": [
          "neuroacanthocytosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016987"
    },
    {
      "id": 18474,
      "label": "Huntington disease-like syndrome due to C9ORF72 expansions",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        16361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021702",
          "MEDGEN:1676144",
          "Orphanet:401901",
          "UMLS:C5190586"
        ],
        "synonyms": [
          "C9ORF72-related Huntington disease phenocopy",
          "C9ORF72-related Huntington disease-like syndrome",
          "Huntington disease phenocopy due to C9ORF72 expansions"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018425"
    },
    {
      "id": 23334,
      "label": "childhood-onset benign chorea with striatal involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7073,
        16361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017906",
          "MEDGEN:1798886",
          "Orphanet:494541",
          "UMLS:C5567463"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044332"
    }
  ],
  "roots": [
    {
      "id": 2754,
      "label": "Huntington disease and related disorders"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    }
  ]
}