{
  "id": 12079,
  "label": "Charcot-Marie-Tooth disease type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010949",
  "properties": {
    "xrefs": [
      "DOID:0110159",
      "GARD:0009192",
      "MEDGEN:371512",
      "MESH:C537989",
      "OMIM:600882",
      "Orphanet:99936",
      "SCTID:717008005",
      "UMLS:C1833219",
      "icd11.foundation:1425224652"
    ],
    "synonyms": [
      "CMT2B",
      "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A",
      "Charcot-Marie-Tooth disease, type 2B",
      "HMSN2B",
      "RAB7A Charcot-Marie-Tooth disease type 2",
      "autosomal dominant Charcot-Marie-Tooth disease type 2B",
      "CMT 2B",
      "Charcot Marie Tooth disease type 2B",
      "Charcot-Marie-Tooth disease, autosomal dominant, type 2B",
      "Charcot-Marie-Tooth disease, axonal, type 2B",
      "Charcot-Marie-Tooth disease, neuronal, type 2B",
      "Charcot-Marie-Tooth neuropathy, type 2B",
      "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)",
      "hereditary motor and sensory neuropathy 2B",
      "peripheral sensory neuropathy, autosomal dominant (PSN)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18909,
      "label": "Charcot-Marie-Tooth disease type 2"
    }
  ]
}