{
  "id": 16214,
  "label": "distal hereditary motor neuropathy type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015352",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 9351,
      "label": "neuronopathy, distal hereditary motor, type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16214
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008025"
    },
    {
      "id": 13146,
      "label": "neuronopathy, distal hereditary motor, type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111207",
          "GARD:0018263",
          "MEDGEN:382017",
          "MESH:C567084",
          "OMIM:608634",
          "UMLS:C2608087"
        ],
        "synonyms": [
          "HSPB1 neuronopathy, distal hereditary motor",
          "neuronopathy, distal hereditary motor caused by mutation in HSPB1",
          "HMN 2B",
          "HMN2B",
          "neuronopathy, distal hereditary motor, type IIB",
          "neuropathy, distal hereditary motor, type 2B"
        ],
        "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 HSPB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012080"
    },
    {
      "id": 14279,
      "label": "neuronopathy, distal hereditary motor, type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111209",
          "GARD:0018264",
          "MEDGEN:461969",
          "OMIM:613376",
          "UMLS:C3150619"
        ],
        "synonyms": [
          "HSPB3 neuronopathy, distal hereditary motor",
          "neuronopathy, distal hereditary motor caused by mutation in HSPB3",
          "HMN 2C",
          "HMN2C",
          "neuronopathy, distal hereditary motor, type IIC",
          "neuropathy, distal hereditary motor, type 2C"
        ],
        "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 HSPB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013243"
    },
    {
      "id": 15264,
      "label": "neuronopathy, distal hereditary motor, type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111210",
          "GARD:0018265",
          "MEDGEN:854832",
          "OMIM:615575",
          "UMLS:C3888271"
        ],
        "synonyms": [
          "FBXO38 neuronopathy, distal hereditary motor",
          "neuronopathy, distal hereditary motor caused by mutation in FBXO38",
          "HMN 2D",
          "HMN2D",
          "neuronopathy, distal hereditary motor, type IID",
          "neuropathy, distal hereditary motor, type 2D",
          "spinal muscular atrophy, distal, autosomal dominant, calf-predominant"
        ],
        "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 FBXO38 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014259"
    }
  ],
  "roots": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    }
  ]
}