{
  "id": 14776,
  "label": "Charcot-Marie-Tooth disease dominant intermediate E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013758",
  "properties": {
    "xrefs": [
      "DOID:0110205",
      "GARD:0012011",
      "MEDGEN:928336",
      "OMIM:614455",
      "Orphanet:93114",
      "SCTID:722294004",
      "UMLS:C4302667"
    ],
    "synonyms": [
      "CMTDIE",
      "Charcot-Marie-Tooth disease dominant intermediate E",
      "Charcot-Marie-Tooth disease dominant intermediate type E",
      "Charcot-Marie-Tooth disease, dominant Intermediate type E",
      "Charcot-Marie-Tooth disease-nephropathy syndrome",
      "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis",
      "autosomal dominant intermediate Charcot-Marie-Tooth disease type E",
      "Charcot-Marie-Tooth disease - nephropathy",
      "Charcot-Marie-Tooth disease, dominant intermediate E"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012436",
          "MEDGEN:1826161",
          "Orphanet:90114",
          "UMLS:C5680178"
        ],
        "synonyms": [
          "CMTDI",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal dominant",
          "autosomal dominant intermediate Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019548"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease"
    }
  ]
}