{
  "id": 12211,
  "label": "Charcot-Marie-Tooth disease type 4D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011085",
  "properties": {
    "xrefs": [
      "DOID:0110186",
      "GARD:0003973",
      "MEDGEN:371304",
      "MESH:C535716",
      "OMIM:601455",
      "Orphanet:99950",
      "SCTID:715798007",
      "UMLS:C1832334",
      "icd11.foundation:616686295"
    ],
    "synonyms": [
      "CMT4D",
      "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1",
      "Charcot-Marie-Tooth disease type 4D",
      "HMSN, Lom type",
      "HMSN-Lom",
      "HMSN4D",
      "HMSNL",
      "NDRG1 Charcot-Marie-Tooth disease type 4",
      "hereditary motor ABD sensory neuropathy Lom type",
      "hereditary motor and sensory neuropathy, Lom type",
      "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D",
      "Charcot-Marie-Tooth disease, type 4D",
      "Charcot-Marie-Tooth neuropathy, type 4D",
      "NMSL",
      "neuropathy, hereditary motor and sensory, Lom type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050541",
          "GARD:0012440",
          "MEDGEN:905419",
          "Orphanet:64749",
          "SCTID:715795005",
          "UMLS:C4082197"
        ],
        "synonyms": [
          "AR-CMT1",
          "CMT4",
          "autosomal recessive demyelinating Charcot-Marie-Tooth"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018995"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18911,
      "label": "Charcot-Marie-Tooth disease type 4"
    }
  ]
}