{
  "id": 13309,
  "label": "Charcot-Marie-Tooth disease type 4H",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012250",
  "properties": {
    "xrefs": [
      "DOID:0110192",
      "GARD:0012442",
      "MEDGEN:324487",
      "MESH:C563740",
      "OMIM:609311",
      "Orphanet:99954",
      "SCTID:715802008",
      "UMLS:C1836336",
      "icd11.foundation:214411126"
    ],
    "synonyms": [
      "CMT4H",
      "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4",
      "Charcot-Marie-Tooth disease type 4H",
      "FGD4 Charcot-Marie-Tooth disease type 4",
      "Charcot-Marie-Tooth disease, autosomal recessive, type 4H",
      "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H",
      "Charcot-Marie-Tooth disease, type 4H",
      "Charcot-Marie-Tooth neuropathy, type 4H"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050541",
          "GARD:0012440",
          "MEDGEN:905419",
          "Orphanet:64749",
          "SCTID:715795005",
          "UMLS:C4082197"
        ],
        "synonyms": [
          "AR-CMT1",
          "CMT4",
          "autosomal recessive demyelinating Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018995"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4"
    }
  ]
}