{
  "id": 18577,
  "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018567",
  "properties": {
    "xrefs": [
      "GARD:0021815",
      "MEDGEN:1800451",
      "Orphanet:435819",
      "UMLS:C5569028"
    ],
    "synonyms": [
      "CMT2 due to TFG mutation"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12571,
      "label": "hereditary motor and sensory neuropathy, Okinawa type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4423,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010131",
          "MEDGEN:346886",
          "MESH:C535717",
          "OMIM:604484",
          "Orphanet:90117",
          "UMLS:C1858338"
        ],
        "synonyms": [
          "HMSNP",
          "hereditary motor and sensory neuropathy, proximal type",
          "HMSNO",
          "hereditary motor and sensory neuropathy, proximal type, formerly",
          "neuropathy, hereditary motor and sensory, Okinawa type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011468"
    },
    {
      "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": 12571,
      "label": "hereditary motor and sensory neuropathy, Okinawa type"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}