{
  "id": 11705,
  "label": "Charcot-Marie-Tooth disease X-linked recessive 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010550",
  "properties": {
    "xrefs": [
      "DOID:0110208",
      "GARD:0001243",
      "MEDGEN:336803",
      "MESH:C535302",
      "OMIM:302801",
      "Orphanet:101076",
      "SCTID:763457000",
      "UMLS:C1844873"
    ],
    "synonyms": [
      "CMTX 2",
      "CMTX2",
      "Charcot Marie Tooth disease X-linked recessive 2",
      "Charcot-Marie-Tooth disease X-linked recessive type 2",
      "Charcot-Marie-Tooth disease, X-linked recessive, 2",
      "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2",
      "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive",
      "X-linked Charcot-Marie-Tooth disease type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18910,
      "label": "Charcot-Marie-Tooth disease type X",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050542",
          "GARD:0012444",
          "ICD9:356.9",
          "MEDGEN:1637021",
          "Orphanet:64747",
          "SCTID:230552007",
          "UMLS:C4551551"
        ],
        "synonyms": [
          "CMTX",
          "COWCK",
          "X-linked hereditary motor and sensory neuropathy",
          "X-linked Charcot-Marie-Tooth disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018994"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18910,
      "label": "Charcot-Marie-Tooth disease type X"
    }
  ]
}