{
  "id": 12978,
  "label": "Charcot-Marie-Tooth disease type 1F",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011902",
  "properties": {
    "xrefs": [
      "DOID:0110149",
      "GARD:0009191",
      "MEDGEN:334337",
      "MESH:C537987",
      "OMIM:607734",
      "Orphanet:101085",
      "SCTID:719980006",
      "UMLS:C1843164",
      "icd11.foundation:1160290076"
    ],
    "synonyms": [
      "CMT1F",
      "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL",
      "Charcot-Marie-Tooth disease, type 1F",
      "NEFL Charcot-Marie-Tooth disease type 1",
      "CMT 1F",
      "Charcot Marie Tooth disease type 1F",
      "Charcot-Marie-Tooth disease, demyelinating, type 1F",
      "Charcot-Marie-Tooth neuropathy, type 1F"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).."
  },
  "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"
    }
  ]
}