{
  "id": 18139,
  "label": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017940",
  "properties": {
    "xrefs": [
      "GARD:0021447",
      "MEDGEN:1633598",
      "Orphanet:324611",
      "SCTID:764730007",
      "UMLS:C4707173"
    ],
    "synonyms": [
      "CMT2 due to KIF5A mutation"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms."
  },
  "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"
    },
    {
      "id": 24348,
      "label": "KIF5A-related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "KIF5A-RD",
          "KIF5A-related disorder",
          "kinesin family member 5A (KIF5A)-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any nervous system disorder in which the cause of the disease is a variation in the KIF5A gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100629"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    },
    {
      "id": 24348,
      "label": "KIF5A-related neurological disorder"
    }
  ]
}