{
  "id": 21713,
  "label": "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0025622",
  "properties": {
    "xrefs": [
      "DOID:0061168",
      "GARD:0025478",
      "MEDGEN:1731194",
      "OMIM:500013",
      "UMLS:C5435765"
    ],
    "synonyms": [
      "CMTMA1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10595",
          "GARD:0006034",
          "ICD9:356.1",
          "MEDGEN:2980",
          "MESH:D002607",
          "MedDRA:10034699",
          "NANDO:1200016",
          "NANDO:2200855",
          "NCIT:C75467",
          "NORD:919",
          "OMIMPS:118220",
          "Orphanet:166",
          "UMLS:C0007959"
        ],
        "synonyms": [
          "hereditary motor and sensory neuropathy",
          "hereditary sensorimotor neuropathy",
          "CMT",
          "CMT/HMSN",
          "Charcot Marie Tooth muscular atrophy",
          "Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth hereditary neuropathy",
          "peroneal muscular atrophy",
          "Charcot Marie Tooth disease",
          "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs."
      },
      "child_count": 24,
      "reference_id": "MONDO:0015626"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16413,
      "label": "Charcot-Marie-Tooth disease"
    }
  ]
}