{
  "id": 13462,
  "label": "giant axonal neuropathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012411",
  "properties": {
    "xrefs": [
      "DOID:0090069",
      "GARD:0012447",
      "MEDGEN:400593",
      "OMIM:610100",
      "Orphanet:401964",
      "UMLS:C1864695"
    ],
    "synonyms": [
      "CMT2 with giant axons",
      "DCAF8 giant axonal neuropathy",
      "HMSN2 with giant axons",
      "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons",
      "giant axonal neuropathy caused by mutation in DCAF8",
      "giant axonal neuropathy type 2",
      "GAN2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons",
      "giant axonal neuropathy 2, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene."
  },
  "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"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050539",
          "GARD:0012431",
          "ICD9:356.0",
          "MEDGEN:124378",
          "NANDO:1200018",
          "Orphanet:64746",
          "SCTID:715665006",
          "UMLS:C0270914",
          "icd11.foundation:403896648"
        ],
        "synonyms": [
          "CMT2",
          "autosomal dominant axonal Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 2",
          "Charcot-Marie-Tooth type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018993"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2734,
      "label": "giant axonal neuropathy"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}