{
  "id": 12974,
  "label": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011898",
  "properties": {
    "xrefs": [
      "DOID:0051028",
      "GARD:0024831",
      "MEDGEN:375113",
      "OMIM:607706",
      "UMLS:C1843183"
    ],
    "synonyms": [
      "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",
      "CMT2 with vocal cord paresis, autosomal recessive",
      "Charcot-Marie-Tooth disease, type 4A, axonal form",
      "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13085,
      "label": "Charcot-Marie-Tooth disease recessive intermediate A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110201",
          "GARD:0012453",
          "MEDGEN:334012",
          "MESH:C564256",
          "OMIM:608340",
          "Orphanet:217055",
          "UMLS:C1842197"
        ],
        "synonyms": [
          "CMTRIA",
          "Charcot-Marie-Tooth disease caused by mutation in GDAP1",
          "Charcot-Marie-Tooth disease recessive intermediate type A",
          "Charcot-Marie-Tooth disease, recessive Intermediate type a",
          "GDAP1 Charcot-Marie-Tooth disease",
          "RI-CMT type A",
          "RI-CMTA",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
          "Charcot-Marie-Tooth disease, recessive intermediate A",
          "Charcot-Marie-Tooth disease, recessive intermediate, A",
          "Charcot-Marie-Tooth neuropathy, recessive Intermediate a",
          "Ri-Cmta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012014"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13085,
      "label": "Charcot-Marie-Tooth disease recessive intermediate A"
    }
  ]
}