{
  "id": 7208,
  "label": "neurodegenerative disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005559",
  "properties": {
    "xrefs": [
      "DOID:1289",
      "EFO:0005772",
      "ICD9:349.89",
      "MEDGEN:17999",
      "MESH:D019636",
      "NCIT:C4802",
      "SCTID:80690008",
      "UMLS:C0027746"
    ],
    "synonyms": [
      "degenerative disease",
      "brain degeneration",
      "central nervous system degenerative disorder",
      "central nervous system neurodegenerative disorder",
      "degenerative disorder of central nervous system",
      "cerebral degeneration disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "parents": [
    {
      "id": 4657,
      "label": "central nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:331",
          "EFO:0009386",
          "MEDGEN:892343",
          "MESH:D002493",
          "NCIT:C2934",
          "SCTID:23853001",
          "UMLS:C4021765"
        ],
        "synonyms": [
          "CNS disorder",
          "central nervous disease",
          "central nervous system disease",
          "central nervous system disease or disorder",
          "central nervous system disorder",
          "disease of central nervous system",
          "disease of the central nervous system",
          "disease or disorder of central nervous system",
          "disorder of central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease involving the central nervous system."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002602"
    }
  ],
  "children": [
    {
      "id": 2963,
      "label": "synucleinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        20409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050890",
          "GARD:0022781",
          "MEDGEN:1682194",
          "MESH:D000080874",
          "UMLS:C5191670"
        ],
        "synonyms": [
          "alpha synucleinopathies",
          "synucleinopathies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]"
      },
      "child_count": 4,
      "reference_id": "MONDO:0000510"
    },
    {
      "id": 3210,
      "label": "eyelid degenerative disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5315,
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10120",
          "ICD9:374.50",
          "MEDGEN:509851",
          "SCTID:1112003",
          "UMLS:C0155209"
        ],
        "synonyms": [
          "eyelid neurodegenerative disease",
          "neurodegenerative disease of eyelid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eyelid."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000941"
    },
    {
      "id": 4146,
      "label": "senile degeneration of brain",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14524",
          "ICD9:331.2",
          "MEDGEN:509626",
          "SCTID:45864009",
          "UMLS:C0154669"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0001987"
    },
    {
      "id": 4169,
      "label": "olivopontocerebellar atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14784",
          "GARD:0027595",
          "ICD9:333.0",
          "MEDGEN:10435",
          "MESH:D009849",
          "NCIT:C84947",
          "SCTID:67761004",
          "UMLS:C0028968",
          "icd11.foundation:1467584080"
        ],
        "synonyms": [
          "OPCA",
          "Thomas' syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002017"
    },
    {
      "id": 4397,
      "label": "neuroaxonal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2367",
          "MEDGEN:90924",
          "MESH:D019150",
          "NCIT:C161542",
          "SCTID:230365004",
          "UMLS:C0338473"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0002283"
    },
    {
      "id": 4626,
      "label": "demyelinating disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3213",
          "MEDGEN:4189",
          "MESH:D003711",
          "NCIT:C34527",
          "UMLS:C0011303"
        ],
        "synonyms": [
          "demyelinating disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others."
      },
      "child_count": 16,
      "reference_id": "MONDO:0002562"
    },
    {
      "id": 6640,
      "label": "choroidal sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4072,
        6639,
        7208,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:980",
          "ICD9:363.4",
          "ICD9:363.40",
          "MEDGEN:137998",
          "MESH:C535358",
          "SCTID:406446000",
          "UMLS:C0344297"
        ],
        "synonyms": [
          "choroidal degenerations",
          "neurodegenerative disease of optic choroid",
          "optic choroid neurodegenerative disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the optic choroid."
      },
      "child_count": 16,
      "reference_id": "MONDO:0004885"
    },
    {
      "id": 7220,
      "label": "tauopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:680",
          "EFO:0005815",
          "MEDGEN:181880",
          "MESH:D024801",
          "UMLS:C0949664"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration."
      },
      "child_count": 4,
      "reference_id": "MONDO:0005574"
    },
    {
      "id": 8392,
      "label": "secondary Parkinson disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13548",
          "EFO:1001175",
          "ICD10CM:G21",
          "ICD9:332.1",
          "MEDGEN:10592",
          "MESH:D010302",
          "NCIT:C34899",
          "SCTID:265377002",
          "UMLS:C0030569"
        ],
        "synonyms": [
          "secondary Parkinsonism",
          "secondary parkinsonism (disorder) [ambiguous]",
          "secondary parkinsonism, unspecified"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006966"
    },
    {
      "id": 16334,
      "label": "infantile bilateral striatal necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005040",
          "MEDGEN:167090",
          "NANDO:2100242",
          "NANDO:2200888",
          "Orphanet:1576",
          "SCTID:718174008",
          "UMLS:C0795996",
          "icd11.foundation:1947032348"
        ],
        "synonyms": [
          "IBSN",
          "infantile bilateral striatal necrosis",
          "infantile striatonigral degeneration",
          "infantile striatonigral necrosis",
          "SNDI",
          "striatal degeneration familial",
          "striatonigral degeneration infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015518"
    },
    {
      "id": 16902,
      "label": "Marchiafava-Bignami disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001809",
          "GARD:0006971",
          "ICD9:341.8",
          "MEDGEN:65955",
          "MESH:D054319",
          "MedDRA:10026828",
          "Orphanet:221074",
          "SCTID:386766007",
          "UMLS:C0238265",
          "icd11.foundation:1694687314"
        ],
        "synonyms": [
          "Marchiafava Bignami disease",
          "acute Marchiafava-Bignami disease",
          "chronic Marchiafava-Bignami syndrome",
          "MBD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016370"
    },
    {
      "id": 17081,
      "label": "superficial siderosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009484",
          "MEDGEN:1371500",
          "NANDO:1200543",
          "Orphanet:247245",
          "UMLS:C2938918"
        ],
        "synonyms": [
          "hemosiderosis of the central nervous system",
          "superficial hemosiderosis of the CNS",
          "superficial hemosiderosis of the central nervous system",
          "superficial siderosis of the CNS",
          "superficial siderosis of the central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016594"
    },
    {
      "id": 18024,
      "label": "primary progressive apraxia of speech",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021377",
          "MEDGEN:1876485",
          "Orphanet:314566",
          "UMLS:C5979991"
        ],
        "synonyms": [
          "PPAOS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017803"
    },
    {
      "id": 18850,
      "label": "human prion disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        21534
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018851",
          "Orphanet:56970"
        ],
        "synonyms": [
          "TSE",
          "transmissible spongiform encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018926"
    },
    {
      "id": 19037,
      "label": "primary progressive freezing gait",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208,
        20335
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018930",
          "MEDGEN:894846",
          "Orphanet:75567",
          "SCTID:715627004",
          "UMLS:C4275078",
          "icd11.foundation:431694225"
        ],
        "synonyms": [
          "PPFG"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019160"
    },
    {
      "id": 19547,
      "label": "primary progressive aphasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081388",
          "EFO:0009053",
          "GARD:0008541",
          "MEDGEN:79466",
          "MESH:D018888",
          "NCIT:C85024",
          "Orphanet:95432",
          "UMLS:C0282513"
        ],
        "synonyms": [
          "Mesulam syndrome",
          "PPA",
          "primary progressive aphasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019806"
    },
    {
      "id": 19749,
      "label": "motor neuron disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:231",
          "EFO:0003782",
          "GARD:0019477",
          "ICD10CM:G12.2",
          "ICD9:335.2",
          "ICD9:335.8",
          "ICD9:335.9",
          "MEDGEN:38785",
          "MESH:D016472",
          "MedDRA:10028003",
          "Orphanet:98503",
          "SCTID:37340000",
          "UMLS:C0085084",
          "icd11.foundation:661720689"
        ],
        "synonyms": [
          "anterior horn cell disease",
          "disease of motor neuron",
          "disease or disorder of motor neuron",
          "disorder of motor neuron",
          "motor neuron disease",
          "motor neuron disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological disease involving the motor neuron."
      },
      "child_count": 8,
      "reference_id": "MONDO:0020128"
    },
    {
      "id": 20115,
      "label": "brachial amyotrophic diplegia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1617621",
          "NCIT:C133085",
          "UMLS:C4522181"
        ],
        "synonyms": [
          "BAD",
          "FAS",
          "brachial amyotrophic diplegia",
          "flail arm syndrome",
          "man-in-barrel syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020708"
    },
    {
      "id": 20940,
      "label": "cerebellar degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4515,
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1443",
          "MEDGEN:75496",
          "NCIT:C84624",
          "SCTID:95646004",
          "UMLS:C0262404"
        ],
        "synonyms": [
          "cerebellar Degeneration",
          "cerebellar degeneration",
          "cerebellum neurodegenerative disease",
          "neurodegenerative disease of cerebellum",
          "cerebral degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders."
      },
      "child_count": 4,
      "reference_id": "MONDO:0022687"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    },
    {
      "id": 21293,
      "label": "cerebral degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:331.9",
          "MEDGEN:56343",
          "SCTID:418143002",
          "UMLS:C0154671"
        ],
        "synonyms": [
          "cerebral degeneration",
          "neurodegenerative disease of telencephalon",
          "telencephalon neurodegenerative disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodegenerative disease that involves the telencephalon."
      },
      "child_count": 4,
      "reference_id": "MONDO:0024238"
    },
    {
      "id": 26151,
      "label": "hypertrophic olivary degeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027406",
          "MEDGEN:1829865",
          "Orphanet:684290",
          "UMLS:C4524077"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975885"
    }
  ],
  "roots": [
    {
      "id": 4657,
      "label": "central nervous system disorder"
    }
  ]
}