{
  "id": 9351,
  "label": "neuronopathy, distal hereditary motor, type 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008025",
  "properties": {
    "xrefs": [
      "DOID:0111208",
      "GARD:0018262",
      "MEDGEN:322471",
      "MESH:C563561",
      "OMIM:158590",
      "UMLS:C1834692"
    ],
    "synonyms": [
      "HSPB8 neuronopathy, distal hereditary motor",
      "neuronopathy, distal hereditary motor caused by mutation in HSPB8",
      "HMN2A",
      "neuronopathy, distal hereditary motor, type IIA"
    ],
    "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 HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16214,
      "label": "distal hereditary motor neuropathy type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111206",
          "GARD:0016954",
          "MEDGEN:777992",
          "MESH:C580044",
          "Orphanet:139525",
          "UMLS:C3711384",
          "icd11.foundation:152961055"
        ],
        "synonyms": [
          "dHMN2",
          "dSMA2",
          "distal spinal muscular atrophy type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015352"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16214,
      "label": "distal hereditary motor neuropathy type 2"
    }
  ]
}