{
  "id": 12764,
  "label": "Charcot-Marie-Tooth disease dominant intermediate B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011674",
  "properties": {
    "xrefs": [
      "DOID:0110197",
      "GARD:0012438",
      "MEDGEN:338346",
      "OMIM:606482",
      "Orphanet:100044",
      "SCTID:765745007",
      "UMLS:C1847902"
    ],
    "synonyms": [
      "CMTDI1",
      "CMTDIB",
      "Charcot-Marie-Tooth disease caused by mutation in DNM2",
      "Charcot-Marie-Tooth disease dominant intermediate type B",
      "Charcot-Marie-Tooth disease, axonal type 2M",
      "Charcot-Marie-Tooth disease, dominant Intermediate type B",
      "DI-CMTB",
      "DNM2 Charcot-Marie-Tooth disease",
      "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M",
      "Charcot-Marie-Tooth disease, axonal, type 2M",
      "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia",
      "Charcot-Marie-Tooth disease, dominant intermediate B",
      "Charcot-Marie-Tooth neuropathy, axonal, type 2M",
      "Charcot-Marie-Tooth neuropathy, dominant Intermediate B",
      "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia",
      "Cmtdi1",
      "DNM2-related intermediate Charcot-Marie-Tooth neuropathy",
      "Di-CMTB",
      "autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 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 demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 16945,
      "label": "autosomal dominant Charcot-Marie-Tooth disease type 2M",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12764,
        18909
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017147",
          "MEDGEN:930341",
          "Orphanet:228179",
          "SCTID:719514002",
          "UMLS:C4304672",
          "icd11.foundation:1601555981"
        ],
        "synonyms": [
          "CMT2M"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016431"
    }
  ],
  "roots": [
    {
      "id": 19355,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease"
    }
  ]
}