{
  "id": 12121,
  "label": "Charcot-Marie-Tooth disease type 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010995",
  "properties": {
    "xrefs": [
      "DOID:0110151",
      "GARD:0001247",
      "MEDGEN:75728",
      "MESH:C537984",
      "OMIM:601098",
      "Orphanet:101083",
      "UMLS:C0270913",
      "icd11.foundation:1224517226"
    ],
    "synonyms": [
      "CMT1C",
      "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF",
      "Charcot-Marie-Tooth disease, type 1C",
      "HMSN1C",
      "LITAF Charcot-Marie-Tooth disease type 1",
      "CMT 1C",
      "CMT, slow nerve conduction type C",
      "Charcot Marie Tooth disease type 1C",
      "Charcot-Marie-Tooth disease, demyelinating, type 1C",
      "Charcot-Marie-Tooth neuropathy, type 1C",
      "HMSN 1C",
      "neuropathy, hereditary motor and sensory, type 1C"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene."
  },
  "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"
    }
  ]
}