{
  "id": 11267,
  "label": "Canavan disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010079",
  "properties": {
    "xrefs": [
      "DOID:3613",
      "GARD:0005984",
      "MEDGEN:61565",
      "MESH:D017825",
      "MedDRA:10067608",
      "NANDO:1200948",
      "NANDO:2200834",
      "NCIT:C84611",
      "NORD:886",
      "OMIM:271900",
      "Orphanet:141",
      "SCTID:80544005",
      "UMLS:C0206307",
      "icd11.foundation:1576870846"
    ],
    "synonyms": [
      "ACY2 deficiency",
      "Canavan disease",
      "Canavan-VAN Bogaert-Bertrand disease",
      "aminoacylase 2 deficiency",
      "aspartoacylase deficiency",
      "spongy degeneration of central nervous system",
      "spongy degeneration of the brain",
      "Acy2 deficiency",
      "Asp deficiency",
      "Aspa deficiency",
      "Canavan-Van Bogaert-Bertrand disease",
      "Von Bogaert-Bertrand disease",
      "spongy Degeneration of central nervous system",
      "spongy degeneration of the central nervous system"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17926,
      "label": "inborn aminoacylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021304",
          "MEDGEN:1842952",
          "Orphanet:308448",
          "UMLS:C5681074"
        ],
        "synonyms": [
          "inborn aminoacylase activity disorder",
          "inborn error of aminoacylase activity",
          "rare inborn error of aminoacylase activity",
          "aminoacylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017686"
    },
    {
      "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": 18048,
      "label": "severe Canavan disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11267
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017437",
          "MEDGEN:1826002",
          "Orphanet:314911",
          "UMLS:C5575558"
        ],
        "synonyms": [
          "infantile Canavan disease",
          "neonatal Canavan disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017830"
    },
    {
      "id": 18049,
      "label": "mild Canavan disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11267
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017438",
          "MEDGEN:865564",
          "Orphanet:314918",
          "UMLS:C4017127"
        ],
        "synonyms": [
          "juvenile Canavan disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017831"
    }
  ],
  "roots": [
    {
      "id": 17926,
      "label": "inborn aminoacylase deficiency"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}