{
  "id": 12966,
  "label": "Charcot-Marie-Tooth disease type 2I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011889",
  "properties": {
    "xrefs": [
      "DOID:0110158",
      "GARD:0009197",
      "MEDGEN:854756",
      "OMIM:607677",
      "Orphanet:99942",
      "SCTID:717013009",
      "UMLS:C3888087",
      "icd11.foundation:1858507973"
    ],
    "synonyms": [
      "CMT2I",
      "Charcot-Marie-Tooth disease, type 2I",
      "CMT 2I",
      "Charcot Marie Tooth disease type 2I",
      "Charcot-Marie-Tooth disease, axonal, type 2I",
      "Charcot-Marie-Tooth neuropathy, type 2I",
      "autosomal dominant Charcot-Marie-Tooth disease type 2I"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12984,
      "label": "Charcot-Marie-Tooth disease dominant intermediate D",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110200",
          "GARD:0009207",
          "MEDGEN:334318",
          "MESH:C564333",
          "OMIM:607791",
          "Orphanet:100046",
          "SCTID:765747004",
          "UMLS:C1843075"
        ],
        "synonyms": [
          "CMTDID",
          "Charcot-Marie-Tooth disease caused by mutation in MPZ",
          "Charcot-Marie-Tooth disease dominant intermediate type D",
          "Charcot-Marie-Tooth disease, dominant Intermediate type D",
          "DI-CMTD",
          "MPZ Charcot-Marie-Tooth disease",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type D",
          "Charcot Marie Tooth disease dominant intermediate 3",
          "Charcot-Marie-Tooth disease, dominant intermediate D",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate D",
          "Di-Cmtd",
          "MPZ-related intermediate Charcot-Marie-Tooth neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011909"
    },
    {
      "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": 12984,
      "label": "Charcot-Marie-Tooth disease dominant intermediate D"
    },
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}