{
  "id": 18957,
  "label": "neuromuscular disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019056",
  "properties": {
    "xrefs": [
      "DOID:440",
      "EFO:1001902",
      "ICD9:358",
      "ICD9:358.9",
      "MEDGEN:10323",
      "MESH:D009468",
      "MedDRA:10029323",
      "NANDO:1100001",
      "NANDO:2100214",
      "Orphanet:68381",
      "UMLS:C0027868"
    ],
    "synonyms": [
      "nerve and muscle disorder",
      "neuromuscular disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 3056,
      "label": "akinetopsia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6812,
        7275,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060130",
          "GARD:0022816"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An agnosia that is a loss of motion perception."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000660"
    },
    {
      "id": 4694,
      "label": "vestibular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4547,
        18957,
        21402
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3426",
          "EFO:0009691",
          "MEDGEN:12079",
          "MESH:D015837",
          "UMLS:C0042594"
        ],
        "synonyms": [
          "disease of vestibular labyrinth",
          "disease of vestibular system",
          "disease or disorder of vestibular labyrinth",
          "disorder of vestibular labyrinth",
          "vestibular labyrinth disease",
          "vestibular labyrinth disease or disorder",
          "vestibular system disease",
          "disorder of vestibular system"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls."
      },
      "child_count": 3,
      "reference_id": "MONDO:0002643"
    },
    {
      "id": 6492,
      "label": "atrophic muscular disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5798,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:913",
          "GARD:0024096",
          "MEDGEN:156267",
          "NCIT:C84574",
          "UMLS:C0752352"
        ],
        "synonyms": [
          "atrophic muscular disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves."
      },
      "child_count": 0,
      "reference_id": "MONDO:0004714"
    },
    {
      "id": 6950,
      "label": "peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5512,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:870",
          "EFO:0003100",
          "MEDGEN:18386",
          "MedDRA:10034606",
          "NCIT:C119734",
          "NCIT:C4731",
          "SCTID:302226006",
          "SCTID:386033004",
          "UMLS:C0031117"
        ],
        "synonyms": [
          "neuropathy",
          "peripheral nerve disorder",
          "peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005244"
    },
    {
      "id": 19001,
      "label": "muscular channelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018917",
          "MEDGEN:1842600",
          "Orphanet:71864",
          "UMLS:C5681306"
        ],
        "synonyms": [
          "channelopathy of muscle tissue",
          "muscle tissue channelopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A channelopathy that involves the muscle tissue."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019119"
    },
    {
      "id": 19747,
      "label": "neuromuscular junction disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        20268
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:439",
          "GARD:0019473",
          "MEDGEN:155665",
          "MESH:D020511",
          "Orphanet:98491",
          "SCTID:128213006",
          "UMLS:C0751950"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020124"
    },
    {
      "id": 19749,
      "label": "motor neuron disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        18957
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:231",
          "EFO:0003782",
          "GARD:0019477",
          "ICD10CM:G12.2",
          "ICD9:335.2",
          "ICD9:335.8",
          "ICD9:335.9",
          "MEDGEN:38785",
          "MESH:D016472",
          "MedDRA:10028003",
          "Orphanet:98503",
          "SCTID:37340000",
          "UMLS:C0085084",
          "icd11.foundation:661720689"
        ],
        "synonyms": [
          "anterior horn cell disease",
          "disease of motor neuron",
          "disease or disorder of motor neuron",
          "disorder of motor neuron",
          "motor neuron disease",
          "motor neuron disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological disease involving the motor neuron."
      },
      "child_count": 8,
      "reference_id": "MONDO:0020128"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}