{
  "id": 12984,
  "label": "Charcot-Marie-Tooth disease dominant intermediate D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011909",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012436",
          "MEDGEN:1826161",
          "Orphanet:90114",
          "UMLS:C5680178"
        ],
        "synonyms": [
          "CMTDI",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal dominant",
          "autosomal dominant intermediate Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019548"
    }
  ],
  "children": [
    {
      "id": 8706,
      "label": "Charcot-Marie-Tooth disease type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110152",
          "GARD:0001246",
          "MEDGEN:124377",
          "NCIT:C118782",
          "OMIM:118200",
          "Orphanet:101082",
          "UMLS:C0270912",
          "icd11.foundation:1632280319"
        ],
        "synonyms": [
          "CMT1B",
          "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ",
          "Charcot-Marie-Tooth disease, type 1B",
          "HMSN IB",
          "HMSN1B",
          "MPZ Charcot-Marie-Tooth disease type 1",
          "CMT 1B",
          "Charcot Marie Tooth disease type 1B",
          "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B",
          "Charcot-Marie-Tooth disease, demyelinating, type 1B",
          "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy",
          "Charcot-Marie-Tooth neuropathy, type 1B",
          "HMSN 1B",
          "HMSN1",
          "hereditary motor and sensory neuropathy 1",
          "hereditary motor and sensory neuropathy 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007307"
    },
    {
      "id": 12966,
      "label": "Charcot-Marie-Tooth disease type 2I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18909
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011889"
    },
    {
      "id": 12979,
      "label": "Charcot-Marie-Tooth disease type 2J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12984,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110157",
          "GARD:0009198",
          "MEDGEN:375107",
          "MESH:C535417",
          "OMIM:607736",
          "Orphanet:99943",
          "SCTID:717014003",
          "UMLS:C1843153",
          "icd11.foundation:1498789307"
        ],
        "synonyms": [
          "CMT2J",
          "Charcot-Marie-Tooth disease, type 2J",
          "CMT 2J",
          "Charcot Marie Tooth disease type 2J",
          "Charcot-Marie-Tooth disease, axonal, type 2J",
          "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities",
          "Charcot-Marie-Tooth neuropathy, type 2J",
          "autosomal dominant Charcot-Marie-Tooth disease type 2J"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011903"
    }
  ],
  "roots": [
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease"
    }
  ]
}