{
  "id": 24343,
  "label": "DCTN1-related neurodegeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100624",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 9510,
      "label": "Perry syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        20335,
        24343
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060486",
          "GARD:0010453",
          "ICD9:348.89",
          "MEDGEN:357007",
          "MESH:C566822",
          "NANDO:1200547",
          "OMIM:168605",
          "Orphanet:178509",
          "SCTID:699184009",
          "UMLS:C1868594",
          "icd11.foundation:1441227658"
        ],
        "synonyms": [
          "Parkinsonism with alveolar hypoventilation and mental depression",
          "Perry syndrome",
          "parkinsonism with alveolar hypoventilation and mental depression"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008201"
    },
    {
      "id": 12956,
      "label": "neuronopathy, distal hereditary motor, type 7B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16217,
        24343
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011879"
    }
  ],
  "roots": [
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}