{
  "id": 10025,
  "label": "Alexander disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008752",
  "properties": {
    "xrefs": [
      "DOID:4252",
      "GARD:0005774",
      "MEDGEN:78724",
      "MESH:D038261",
      "NANDO:1200554",
      "NANDO:2200835",
      "NCIT:C84545",
      "NORD:749",
      "OMIM:203450",
      "Orphanet:58",
      "SCTID:81854007",
      "UMLS:C0270726",
      "icd11.foundation:2023359698"
    ],
    "synonyms": [
      "Alexander disease",
      "AxD",
      "ALXDRD",
      "alexanders leukodystrophy",
      "megalencephaly in infancy accompanied by progressive spasticity and dementia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    }
  ],
  "children": [
    {
      "id": 18342,
      "label": "Alexander disease type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10025
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017572",
          "MEDGEN:1820954",
          "NANDO:1200555",
          "Orphanet:363717",
          "UMLS:C5769581"
        ],
        "synonyms": [
          "AxD type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018209"
    },
    {
      "id": 18343,
      "label": "Alexander disease type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10025
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017573",
          "MEDGEN:1842714",
          "NANDO:1200556",
          "Orphanet:363722",
          "UMLS:C5679914"
        ],
        "synonyms": [
          "AxD type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018210"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}