{
  "id": 14896,
  "label": "neuronopathy, distal hereditary motor, type 5B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013884",
  "properties": {
    "xrefs": [
      "DOID:0111205",
      "GARD:0018267",
      "MEDGEN:766570",
      "OMIM:614751",
      "UMLS:C3553656"
    ],
    "synonyms": [
      "REEP1 neuronopathy, distal hereditary motor",
      "neuronopathy, distal hereditary motor caused by mutation in REEP1",
      "HMN 5B",
      "HMN5B",
      "dHMN 5B",
      "neuronopathy, distal hereditary motor, type VB",
      "neuropathy, distal hereditary motor, type 5B",
      "spinal muscular atrophy, distal, type 5B"
    ],
    "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 REEP1 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"
    }
  ]
}