{
  "id": 26554,
  "label": "AARS1-related leukoencephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010132",
  "properties": {
    "xrefs": [
      "GARD:0027336"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 15591,
      "label": "developmental and epileptic encephalopathy, 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        24182,
        26554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080451",
          "GARD:0016092",
          "MEDGEN:908570",
          "OMIM:616339",
          "UMLS:C4225361"
        ],
        "synonyms": [
          "AARS early infantile epileptic encephalopathy",
          "DEE29",
          "EIEE29",
          "developmental and epileptic encephalopathy 29",
          "early infantile epileptic encephalopathy caused by mutation in AARS",
          "epileptic encephalopathy, early infantile, 29",
          "epileptic encephalopathy, early infantile, type 29"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014593"
    },
    {
      "id": 21961,
      "label": "trichothiodystrophy 8, nonphotosensitive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18217,
        26554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061023",
          "GARD:0025589",
          "MEDGEN:1794267",
          "OMIM:619691",
          "UMLS:C5562057"
        ],
        "synonyms": [
          "TTD8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030517"
    },
    {
      "id": 21989,
      "label": "leukoencephalopathy, hereditary diffuse, with spheroids 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22045,
        26554
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027268",
          "MEDGEN:1794254",
          "OMIM:619661",
          "UMLS:C5562044"
        ],
        "synonyms": [
          "HDLS2",
          "leukoencephalopathy, hereditary diffuse, with spheroids 2",
          "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030634"
    }
  ],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}