{
  "id": 18048,
  "label": "severe Canavan disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017830",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11267,
      "label": "Canavan disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17926,
        18952
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010079"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11267,
      "label": "Canavan disease"
    }
  ]
}