{
  "id": 2734,
  "label": "giant axonal neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000128",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6005,
      "label": "axonal neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7319",
          "GARD:0023865",
          "MEDGEN:266071",
          "NCIT:C27301",
          "SCTID:60703000",
          "UMLS:C1263857"
        ],
        "synonyms": [
          "axon peripheral neuropathy",
          "axonal neuropathy",
          "peripheral neuropathy of axon"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any nerve disorder affecting the axon of a nerve."
      },
      "child_count": 3,
      "reference_id": "MONDO:0004183"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "id": 10960,
      "label": "giant axonal neuropathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2734
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009749"
    },
    {
      "id": 13462,
      "label": "giant axonal neuropathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2734,
        18909
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012411"
    }
  ],
  "roots": [
    {
      "id": 6005,
      "label": "axonal neuropathy"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}