{
  "id": 13292,
  "label": "Charcot-Marie-Tooth disease type 2A2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012231",
  "properties": {
    "xrefs": [
      "DOID:0110155",
      "GARD:0016925",
      "MEDGEN:1648317",
      "MESH:C563757",
      "NCIT:C150646",
      "OMIM:609260",
      "Orphanet:99947",
      "SCTID:764850002",
      "UMLS:C4721887",
      "icd11.foundation:1274363794"
    ],
    "synonyms": [
      "CMT2A2",
      "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2",
      "Charcot-Marie-Tooth disease type 2A2A",
      "Charcot-Marie-Tooth disease, axonal, type 2A2A",
      "HMSN IIA2",
      "HMSN2A2",
      "MFN2 Charcot-Marie-Tooth disease type 2",
      "hereditary motor and sensory neuropathy IIA2",
      "CMT2A2A",
      "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2",
      "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A",
      "Charcot-Marie-Tooth disease, axonal, type 2A2",
      "Charcot-Marie-Tooth disease, neuronal, type 2A2",
      "Charcot-Marie-Tooth neuropathy, type 2A2",
      "HMSN IIa2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2A2",
      "hereditary motor and sensory neuropathy IIa2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050539",
          "GARD:0012431",
          "ICD9:356.0",
          "MEDGEN:124378",
          "NANDO:1200018",
          "Orphanet:64746",
          "SCTID:715665006",
          "UMLS:C0270914",
          "icd11.foundation:403896648"
        ],
        "synonyms": [
          "CMT2",
          "autosomal dominant axonal Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 2",
          "Charcot-Marie-Tooth type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018993"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}