{
  "id": 16965,
  "label": "Charcot-Marie-Tooth disease type 2B5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016454",
  "properties": {
    "xrefs": [
      "GARD:0017153",
      "MEDGEN:1668955",
      "Orphanet:228374",
      "UMLS:C4749824",
      "icd11.foundation:1603286685"
    ],
    "synonyms": [
      "AR-CMT2B5",
      "Charcot-Marie-Tooth disease type 2B5",
      "SEOAN due to NEFL deficiency",
      "autosomal recessive Charcot-Marie-Tooth disease type 2B5",
      "severe early-onset axonal neuropathy due to NEFL deficiency",
      "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities."
  },
  "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"
    }
  ]
}