{
  "id": 12970,
  "label": "Charcot-Marie-Tooth disease type 2E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011894",
  "properties": {
    "xrefs": [
      "DOID:0110165",
      "GARD:0009193",
      "MEDGEN:375127",
      "MESH:C537994",
      "NCIT:C134953",
      "OMIM:607684",
      "Orphanet:99939",
      "SCTID:717012004",
      "UMLS:C1843225",
      "icd11.foundation:1476045360"
    ],
    "synonyms": [
      "CMT2E",
      "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL",
      "Charcot-Marie-Tooth disease, type 2E",
      "NEFL Charcot-Marie-Tooth disease type 2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2E",
      "CMT 2E",
      "Charcot Marie Tooth disease type 2E",
      "Charcot-Marie-Tooth disease, axonal, type 2E",
      "Charcot-Marie-Tooth neuropathy, type 2E"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}