{
  "id": 12956,
  "label": "neuronopathy, distal hereditary motor, type 7B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011879",
  "properties": {
    "xrefs": [
      "DOID:0111202",
      "GARD:0018270",
      "MEDGEN:375157",
      "MESH:C564362",
      "OMIM:607641",
      "UMLS:C1843315"
    ],
    "synonyms": [
      "DCTN1 neuronopathy, distal hereditary motor",
      "neuronopathy, distal hereditary motor caused by mutation in DCTN1",
      "Dhmn7B",
      "HMN 7B",
      "HMN7B",
      "Lower motor neuron disease, dynactin type",
      "neuronopathy, distal hereditary motor, type VIIB",
      "neuropathy, distal hereditary motor, type 7B",
      "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B"
    ],
    "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 DCTN1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16217,
      "label": "distal hereditary motor neuropathy type 7",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111199",
          "GARD:0016960",
          "MEDGEN:1662655",
          "Orphanet:139589",
          "UMLS:C4749653",
          "icd11.foundation:80361835"
        ],
        "synonyms": [
          "dHMN7",
          "distal spinal muscular atrophy with vocal cord paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015355"
    },
    {
      "id": 24343,
      "label": "DCTN1-related neurodegeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027375"
        ],
        "synonyms": [
          "DCTN1-RD",
          "DCTN1-related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurodegenerative disorder in which the cause of the disease is a mutation in the DCTN1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100624"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16217,
      "label": "distal hereditary motor neuropathy type 7"
    },
    {
      "id": 24343,
      "label": "DCTN1-related neurodegeneration"
    }
  ]
}