{
  "id": 6995,
  "label": "multiple sclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005301",
  "properties": {
    "xrefs": [
      "DOID:2377",
      "ICD10CM:G35",
      "ICD10WHO:G35",
      "ICD9:340",
      "MEDGEN:10123",
      "MESH:D009103",
      "NANDO:1200023",
      "NANDO:2100250",
      "NANDO:2200904",
      "NCIT:C3243",
      "Orphanet:802",
      "SCTID:24700007",
      "UMLS:C0026769",
      "icd11.foundation:1298865187"
    ],
    "synonyms": [
      "generalised multiple sclerosis",
      "generalized multiple sclerosis",
      "insular sclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2996,
      "label": "autoimmune disorder of central nervous system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657,
        4981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060004",
          "EFO:0020092"
        ],
        "synonyms": [
          "central nervous system autoimmune disease",
          "central nervous system hypersensitivity reaction type II disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hypersensitivity reaction type II disease that involves the central nervous system."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000568"
    },
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 8166,
      "label": "CNS demyelinating autoimmune disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000870",
          "MEDGEN:199756",
          "MESH:D020278",
          "UMLS:C0751873"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens."
      },
      "child_count": 1,
      "reference_id": "MONDO:0006704"
    },
    {
      "id": 20199,
      "label": "demyelinating disease of central nervous system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:G35-G37",
          "ICD9:341.8",
          "ICD9:341.9",
          "MEDGEN:3719",
          "NCIT:C34526",
          "SCTID:6118003",
          "UMLS:C0011302"
        ],
        "synonyms": [
          "demyelinating CNS disease",
          "demyelinating disease central nervous system (CNS)",
          "demyelinating disease of central nervous system",
          "demyelinating disorder of central nervous system",
          "demyelinating disorders of the central nervous system"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020800"
    }
  ],
  "children": [
    {
      "id": 6980,
      "label": "chronic progressive multiple sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003840",
          "MEDGEN:140733",
          "MESH:D020528",
          "SCTID:230373008",
          "UMLS:C0393665"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)"
      },
      "child_count": 3,
      "reference_id": "MONDO:0005284"
    },
    {
      "id": 7006,
      "label": "relapsing-remitting multiple sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2378",
          "EFO:0003929",
          "MEDGEN:155669",
          "MESH:D020529",
          "NANDO:1200024",
          "NANDO:2201319",
          "NCIT:C165675",
          "SCTID:426373005",
          "UMLS:C0751967",
          "icd11.foundation:799053936"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0005314"
    },
    {
      "id": 16943,
      "label": "Marburg acute multiple sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6995,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020572",
          "MEDGEN:1641985",
          "Orphanet:228157",
          "SCTID:766246000",
          "UMLS:C4707723",
          "icd11.foundation:113448281"
        ],
        "synonyms": [
          "acute multiple sclerosis, Marburg type",
          "acute multiple sclerosis, Marburg variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016429"
    },
    {
      "id": 18743,
      "label": "pediatric multiple sclerosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010443",
          "MEDGEN:1799994",
          "Orphanet:477738",
          "UMLS:C5568571"
        ],
        "synonyms": [
          "MS paediatric",
          "MS pediatric",
          "multiple sclerosis, paediatric",
          "multiple sclerosis, pediatric",
          "paediatric MS",
          "pediatric MS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018784"
    }
  ],
  "roots": [
    {
      "id": 2996,
      "label": "autoimmune disorder of central nervous system"
    },
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 8166,
      "label": "CNS demyelinating autoimmune disease"
    },
    {
      "id": 20199,
      "label": "demyelinating disease of central nervous system"
    }
  ]
}