{
  "id": 15125,
  "label": "Charcot-Marie-Tooth disease type 4B3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014117",
  "properties": {
    "xrefs": [
      "DOID:0110194",
      "GARD:0017578",
      "MEDGEN:811329",
      "OMIM:615284",
      "Orphanet:363981",
      "SCTID:763345008",
      "UMLS:C3695063"
    ],
    "synonyms": [
      "CMT4B3",
      "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1",
      "Charcot-Marie-Tooth disease with focally folded myelin",
      "SBF1 Charcot-Marie-Tooth disease type 4",
      "Charcot-Marie-Tooth disease, type 4B3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050541",
          "GARD:0012440",
          "MEDGEN:905419",
          "Orphanet:64749",
          "SCTID:715795005",
          "UMLS:C4082197"
        ],
        "synonyms": [
          "AR-CMT1",
          "CMT4",
          "autosomal recessive demyelinating Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018995"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4"
    }
  ]
}