{
  "id": 12217,
  "label": "Charcot-Marie-Tooth disease type 2D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011091",
  "properties": {
    "xrefs": [
      "DOID:0110164",
      "GARD:0001251",
      "MEDGEN:316946",
      "MESH:C537993",
      "NCIT:C122659",
      "OMIM:601472",
      "Orphanet:99938",
      "SCTID:717011006",
      "UMLS:C1832274",
      "icd11.foundation:1617529678"
    ],
    "synonyms": [
      "CMT2D",
      "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS",
      "Charcot-Marie-Tooth disease, type 2D",
      "GARS Charcot-Marie-Tooth disease type 2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2D",
      "CMT 2D",
      "Charcot Marie Tooth disease type 2D",
      "Charcot-Marie-Tooth disease, axonal, type 2D",
      "Charcot-Marie-Tooth disease, neuronal, type 2D",
      "Charcot-Marie-Tooth neuropathy, type 2D"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050539",
          "GARD:0012431",
          "ICD9:356.0",
          "MEDGEN:124378",
          "NANDO:1200018",
          "Orphanet:64746",
          "SCTID:715665006",
          "UMLS:C0270914",
          "icd11.foundation:403896648"
        ],
        "synonyms": [
          "CMT2",
          "autosomal dominant axonal Charcot-Marie-Tooth disease",
          "hereditary motor and sensory neuropathy type 2",
          "Charcot-Marie-Tooth type 2",
          "autosomal dominant Charcot-Marie-Tooth disease type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."
      },
      "child_count": 39,
      "reference_id": "MONDO:0018993"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}