{
  "id": 11637,
  "label": "Charcot-Marie-Tooth disease X-linked dominant 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010479",
  "properties": {
    "xrefs": [
      "DOID:0110207",
      "GARD:0012445",
      "MEDGEN:813032",
      "OMIM:300905",
      "Orphanet:352675",
      "SCTID:763347000",
      "UMLS:C3806702"
    ],
    "synonyms": [
      "CMTX6",
      "Charcot-Marie-Tooth disease X-linked dominant type 6",
      "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant",
      "Charcot-Marie-Tooth disease, X-linked dominant, type 6",
      "X-linked Charcot-Marie-Tooth disease type 6",
      "CMT6X",
      "Charcot-Marie-Tooth disease, X-linked dominant, 6",
      "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)."
  },
  "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"
    }
  ]
}