{
  "id": 14373,
  "label": "Charcot-Marie-Tooth disease recessive intermediate B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013338",
  "properties": {
    "xrefs": [
      "DOID:0110204",
      "GARD:0012454",
      "MEDGEN:462247",
      "OMIM:613641",
      "Orphanet:254334",
      "UMLS:C3150897"
    ],
    "synonyms": [
      "CMTRIB",
      "Charcot-Marie-Tooth disease caused by mutation in KARS",
      "Charcot-Marie-Tooth disease recessive intermediate type B",
      "Charcot-Marie-Tooth disease, recessive Intermediate type B",
      "KARS Charcot-Marie-Tooth disease",
      "RI-CMT type B",
      "RI-CMTB",
      "autosomal recessive intermediate Charcot-Marie-Tooth disease type B",
      "Charcot-Marie-Tooth disease, recessive intermediate B",
      "Charcot-Marie-Tooth disease, recessive intermediate, B",
      "Charcot-Marie-Tooth neuropathy, recessive Intermediate B"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012452",
          "MEDGEN:1843095",
          "Orphanet:268337",
          "UMLS:C5679732"
        ],
        "synonyms": [
          "RI-CMT",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017058"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease"
    }
  ]
}