{
  "id": 10960,
  "label": "giant axonal neuropathy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009749",
  "properties": {
    "xrefs": [
      "DOID:0090068",
      "GARD:0006500",
      "MEDGEN:376775",
      "OMIM:256850",
      "Orphanet:643",
      "UMLS:C1850386"
    ],
    "synonyms": [
      "GAN",
      "GAN giant axonal neuropathy",
      "gan",
      "gan giant axonal neuropathy",
      "giant axonal neuropathy 1",
      "giant axonal neuropathy caused by mutation in GAN",
      "giant axonal neuropathy caused by mutation in gan",
      "giant axonal neuropathy type 1",
      "giant axonal neuropathy-1",
      "GAN1",
      "giant axonal neuropathy 1, autosomal recessive",
      "neuropathy, giant axonal"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2734,
      "label": "giant axonal neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6005,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022713",
          "ICD9:349.89",
          "MEDGEN:1684765",
          "MESH:D056768",
          "NCIT:C84728",
          "NORD:1182",
          "OMIMPS:256850",
          "SCTID:128207002",
          "UMLS:C5200933",
          "icd11.foundation:1848636316"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000128"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2734,
      "label": "giant axonal neuropathy"
    }
  ]
}