{
  "id": 24078,
  "label": "neuronopathy, distal hereditary motor, type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100350",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3724,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111198",
          "GARD:0019926",
          "MEDGEN:1787720",
          "OMIMPS:182960",
          "Orphanet:140465",
          "UMLS:C5548212"
        ],
        "synonyms": [
          "autosomal dominant dHMN",
          "autosomal dominant distal hereditary motor neuropathy",
          "autosomal dominant distal spinal muscular atrophy",
          "distal hereditary motor neuropathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal hereditary motor neuropathy."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015362"
    }
  ],
  "children": [
    {
      "id": 14896,
      "label": "neuronopathy, distal hereditary motor, type 5B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24078
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013884"
    },
    {
      "id": 16215,
      "label": "neuronopathy, distal hereditary motor, type 5A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111204",
          "GARD:0018266",
          "OMIM:600794"
        ],
        "synonyms": [
          "dHMN5",
          "distal HMN V",
          "distal hereditary motor neuropathy type V",
          "distal spinal muscular atrophy type 5",
          "neuronopathy, distal hereditary motor, type 5",
          "spinal muscular atrophy, distal, type 5",
          "HMN 5A",
          "HMN5A",
          "dHMN 5A",
          "neuronopathy, distal hereditary motor, type 5A",
          "neuronopathy, distal hereditary motor, type VA",
          "neuropathy, distal hereditary motor, type 5A",
          "spinal muscular atrophy, distal, type 5A",
          "spinal muscular atrophy, distal, with upper limb predominance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015353"
    },
    {
      "id": 22076,
      "label": "neuronopathy, distal hereditary motor, type 5C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24078
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030860"
    }
  ],
  "roots": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    }
  ]
}