{
  "id": 22076,
  "label": "neuronopathy, distal hereditary motor, type 5C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030860",
  "properties": {
    "xrefs": [
      "DOID:0081401",
      "GARD:0018268",
      "MEDGEN:1760720",
      "OMIM:619112",
      "UMLS:C5436838"
    ],
    "synonyms": [
      "DHMN5C",
      "HMN5C",
      "neuropathy, distal hereditary motor, type VC",
      "spinal muscular atrophy, distal, type 5C"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24078,
      "label": "neuronopathy, distal hereditary motor, type 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111203",
          "GARD:0016955",
          "MEDGEN:318838",
          "MESH:C563443",
          "Orphanet:139536",
          "UMLS:C1833308"
        ],
        "synonyms": [
          "dHMN5",
          "distal HMN V",
          "distal hereditary motor neuropathy type V",
          "distal spinal muscular atrophy type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0100350"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24078,
      "label": "neuronopathy, distal hereditary motor, type 5"
    }
  ]
}