{
  "id": 11704,
  "label": "Charcot-Marie-Tooth disease X-linked dominant 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010549",
  "properties": {
    "xrefs": [
      "DOID:0110209",
      "GARD:0001258",
      "MEDGEN:337104",
      "MEDGEN:98290",
      "MESH:C564446",
      "NCIT:C129068",
      "OMIM:302800",
      "OMIM:302900",
      "Orphanet:101075",
      "SCTID:763455008",
      "UMLS:C0393808",
      "UMLS:C1844863"
    ],
    "synonyms": [
      "CMT1X",
      "CMT2",
      "CMT2, formerly",
      "CMTX",
      "CMTX 1",
      "CMTX1",
      "Charcot Marie Tooth disease X-linked 1",
      "Charcot-Marie-Tooth disease X-linked dominant 1",
      "Charcot-Marie-Tooth disease X-linked dominant type 1",
      "Charcot-Marie-Tooth disease type X caused by mutation in GJB1",
      "Charcot-Marie-Tooth disease, X-linked dominant, 1",
      "Charcot-Marie-Tooth disease, X-linked dominant, type 1",
      "Charcot-Marie-Tooth disease, X-linked, 1",
      "Charcot-Marie-Tooth neuropathy X type 1",
      "Charcot-Marie-Tooth neuropathy, X-linked, 1",
      "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined",
      "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked",
      "GJB1 Charcot-Marie-Tooth disease type X",
      "HMSN, X-linked",
      "X-linked Charcot-Marie-Tooth disease type 1",
      "hereditary motor and sensory neuropathy, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females."
  },
  "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"
    }
  ]
}