{
  "id": 8710,
  "label": "Charcot-Marie-Tooth disease type 1E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007311",
  "properties": {
    "xrefs": [
      "DOID:0110153",
      "GARD:0009190",
      "MEDGEN:501212",
      "MESH:C537986",
      "OMIM:118300",
      "Orphanet:90658",
      "UMLS:C3495591",
      "icd11.foundation:1924906594"
    ],
    "synonyms": [
      "CMT1E",
      "Charcot-Marie-Tooth disease and deafness",
      "Charcot-Marie-Tooth disease, type 1E",
      "Charcot-Marie-Tooth disease-deafness syndrome",
      "CMT 1E",
      "Charcot Marie Tooth disease type 1E",
      "Charcot-Marie-Tooth disease, demyelinating, type 1E",
      "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18926,
      "label": "Charcot-Marie-Tooth disease type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050538",
          "GARD:0012433",
          "MEDGEN:155486",
          "NANDO:1200017",
          "Orphanet:65753",
          "SCTID:398040009",
          "UMLS:C0751036"
        ],
        "synonyms": [
          "CMT1",
          "Charcot-Marie-Tooth neuropathy type 1",
          "autosomal dominant demyelinating Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 1",
          "Charcot-Marie-Tooth type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019011"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18926,
      "label": "Charcot-Marie-Tooth disease type 1"
    }
  ]
}