{
  "id": 24271,
  "label": "hereditary neuromuscular disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100546",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 22,
  "parents": [
    {
      "id": 18957,
      "label": "neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "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"
      },
      "child_count": 8,
      "reference_id": "MONDO:0019056"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "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 characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9300,
      "label": "Meniere disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8201,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9849",
          "EFO:0006862",
          "ICD9:386.0",
          "ICD9:386.00",
          "MEDGEN:7530",
          "MESH:D008575",
          "NCIT:C185243",
          "OMIM:156000",
          "Orphanet:45360",
          "SCTID:13445001",
          "UMLS:C0025281",
          "icd11.foundation:683932278"
        ],
        "synonyms": [
          "Meniere disease",
          "Meniere's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops."
      },
      "child_count": 12,
      "reference_id": "MONDO:0007972"
    },
    {
      "id": 9378,
      "label": "myotonia congenita, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10923,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081336",
          "GARD:0006176",
          "ICD9:359.29",
          "MEDGEN:422446",
          "OMIM:160800",
          "SCTID:57938005",
          "SCTID:8960007",
          "UMLS:C2936781"
        ],
        "synonyms": [
          "Thomsen and Becker disease",
          "Thomsen disease",
          "myotonia congenita, autosomal dominant",
          "myotonia congenita, dominant",
          "myotonia Levior"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008055"
    },
    {
      "id": 9529,
      "label": "Andersen-Tawil syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        19001,
        19046,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050434",
          "GARD:0009453",
          "ICD9:759.89",
          "MEDGEN:327586",
          "MESH:D050030",
          "NANDO:1200827",
          "NCIT:C84559",
          "NORD:1883",
          "OMIM:170390",
          "Orphanet:37553",
          "SCTID:422348008",
          "UMLS:C1563715"
        ],
        "synonyms": [
          "ATS",
          "Andersen cardiodysrhythmic periodic paralysis",
          "Andersen syndrome",
          "Andersen-Tawil syndrome",
          "LQT7",
          "long QT syndrome 7",
          "long QT syndrome type 7",
          "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features",
          "cardiodysrhythmic potassium-sensitive periodic paralysis",
          "periodic paralysis, Potassium-sensitive cardiodysrhythmic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008222"
    },
    {
      "id": 10928,
      "label": "myotonia congenita, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        10923,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000844",
          "MEDGEN:155852",
          "NANDO:1200499",
          "OMIM:255700",
          "UMLS:C0751360"
        ],
        "synonyms": [
          "autosomal recessive myotonia congenita",
          "myotonia congenita, autosomal recessive",
          "myotonia congenita, recessive",
          "Becker disease",
          "myotonia, generalised",
          "myotonia, generalized"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of myotonia congenita."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009715"
    },
    {
      "id": 12202,
      "label": "myofibrillar myopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16774,
        16878,
        18865,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080092",
          "DOID:0110286",
          "GARD:0016870",
          "MEDGEN:330449",
          "OMIM:601419",
          "OMIM:615325",
          "Orphanet:363543",
          "Orphanet:98909",
          "UMLS:C1832370"
        ],
        "synonyms": [
          "DES autosomal recessive limb-girdle muscular dystrophy",
          "DES myofibrillar myopathy (disease)",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES",
          "autosomal recessive limb-girdle muscular dystrophy type 2R",
          "desmin-related myofibrillar myopathy",
          "desminopathy",
          "myofibrillar myopathy (disease) caused by mutation in DES",
          "myofibrillar myopathy 1",
          "myofibrillar myopathy type 1",
          "myopathy, myofibrillar, type 1",
          "CMD1F and LGMD1D",
          "CMD1F and LGMD1D, formerly",
          "IBM1",
          "MFM1",
          "arrhythmogenic right ventricular cardiomyopathy 7",
          "arrhythmogenic right ventricular cardiomyopathy 7, formerly",
          "arrhythmogenic right ventricular dysplasia, familial, 7",
          "arrhythmogenic right ventricular dysplasia, familial, 7, formerly",
          "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D",
          "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly",
          "cardiomyopathy, dilated, with conduction defect and muscular dystrophy",
          "desmin-related myopathy",
          "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy",
          "desminopathy, primary",
          "inclusion body myopathy 1, autosomal dominant",
          "inclusion body myopathy 1, autosomal dominant, formerly",
          "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy",
          "myopathy, myofibrillar, 1",
          "myopathy, myofibrillar, desmin-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011076"
    },
    {
      "id": 13754,
      "label": "early-onset myopathy with fatal cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16878,
        24219,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081341",
          "GARD:0017324",
          "MEDGEN:435983",
          "MESH:C567129",
          "OMIM:611705",
          "Orphanet:289377",
          "SCTID:702343002",
          "UMLS:C2673677"
        ],
        "synonyms": [
          "Salih myopathy",
          "EOMFC",
          "SALMY",
          "myopathy, early-onset, with fatal cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012714"
    },
    {
      "id": 18432,
      "label": "periodic paralysis with later-onset distal motor neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        16918,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021634",
          "MEDGEN:1670241",
          "Orphanet:397750",
          "UMLS:C4751573"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018343"
    },
    {
      "id": 18530,
      "label": "malignant hyperthermia of anesthesia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8545",
          "GARD:0006964",
          "HP:0002047",
          "ICD9:995.86",
          "MEDGEN:9867",
          "MESH:D008305",
          "MedDRA:10020844",
          "NCIT:C84869",
          "Orphanet:423",
          "SCTID:405501007",
          "UMLS:C0024591"
        ],
        "synonyms": [
          "anaesthesia related hyperthermia",
          "hyperthermia of anaesthesia",
          "hyperthermia of anesthesia",
          "malignant hyperpyrexia",
          "malignant hyperpyrexia due to anaesthesia",
          "malignant hyperthermia",
          "malignant hyperthermia of anesthesia",
          "malignant hyperthermia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018493"
    },
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19747,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3635",
          "GARD:0011902",
          "ICD9:358.00",
          "ICD9:V17.89",
          "MEDGEN:155650",
          "MESH:D020294",
          "NANDO:1200021",
          "NCIT:C84647",
          "NORD:1893",
          "OMIMPS:601462",
          "Orphanet:590",
          "SCTID:230672006",
          "UMLS:C0751882",
          "icd11.foundation:1515367530"
        ],
        "synonyms": [
          "CMS",
          "Congenital Myasthenic Syndromes",
          "myasthenic syndrome, congenital",
          "congenital MG",
          "congenital myasthenia",
          "erb-Goldflam syndrome",
          "familial limb-girdle myasthenia",
          "myasthenia gravis congenital",
          "myasthenia gravis pseudoparalytica"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018940"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    },
    {
      "id": 19744,
      "label": "muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24271,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9884",
          "GARD:0007922",
          "ICD10CM:G71.0",
          "ICD9:359.1",
          "MEDGEN:44527",
          "MESH:D009136",
          "MedDRA:10028356",
          "NANDO:1200486",
          "NANDO:2100233",
          "NCIT:C84910",
          "Orphanet:98473",
          "SCTID:73297009",
          "UMLS:C0026850",
          "icd11.foundation:1464662404"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020121"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 21302,
      "label": "hereditary motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19749,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019478",
          "MEDGEN:78728",
          "Orphanet:98505",
          "SCTID:49793008",
          "UMLS:C0270763"
        ],
        "synonyms": [
          "genetic anterior horn cell disease",
          "genetic motor neuron disease",
          "hereditary motor neuron disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 27,
      "reference_id": "MONDO:0024257"
    },
    {
      "id": 23886,
      "label": "X-linked recessive mitochondrial myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        10856,
        20040,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026061"
        ],
        "synonyms": [
          "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100138"
    },
    {
      "id": 23892,
      "label": "RYR1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19001,
        19669,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026064",
          "Orphanet:98742"
        ],
        "synonyms": [
          "RYR1-related disease",
          "RYR1-related disorder",
          "RYR1-related myopathy",
          "neurological muscular channelopathy due to a genetic ryanodine receptor defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100150"
    },
    {
      "id": 24173,
      "label": "CNGB3-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026221"
        ],
        "synonyms": [
          "CNGB3 retinopathy",
          "ACHM1",
          "ACHM1 (formerly)",
          "ACHM1, formerly",
          "ACHM3",
          "CNGB3 achromatopsia",
          "RMCH1",
          "RMCH1 (formerly)",
          "Rod monochromacy 1 (formerly)",
          "Rod monochromatism 1 (formerly)",
          "achromatopsia 3",
          "achromatopsia caused by mutation in CNGB3",
          "achromatopsia type 3",
          "achromatopsia with myopia",
          "rod monochromacy 1",
          "rod monochromacy 1, formerly",
          "rod monochromatism 1",
          "rod monochromatism 1, formerly",
          "total colorblindness with myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A retinopathy caused by biallelic variants in the CNGB3 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100446"
    },
    {
      "id": 25054,
      "label": "SCN4A-related channelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026568"
        ],
        "synonyms": [
          "SCN4A-related channelopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800468"
    },
    {
      "id": 25935,
      "label": "neuromuscular disorder, congenital, with dysmorphic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027012",
          "MEDGEN:1857169",
          "OMIM:620775",
          "UMLS:C5935643"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958332"
    },
    {
      "id": 26136,
      "label": "Morimoto-Ryu-Malicdan neuromuscular syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027404",
          "MEDGEN:1875051",
          "OMIM:621010",
          "UMLS:C5975521"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975848"
    },
    {
      "id": 26613,
      "label": "KY-related neuromyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24271
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "KY-related neuromyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuromyopathy in which the cause of the disease is mutation in the KY gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1010194"
    },
    {
      "id": 29399,
      "label": "benign paroxysmal positional vertigo",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6654,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13941",
          "ICD9:386.11",
          "MEDGEN:57837",
          "MESH:D065635",
          "OMIM:193007",
          "SCTID:111541001",
          "UMLS:C0155502"
        ],
        "synonyms": [
          "BPPV",
          "BRV",
          "benign paroxysmal positional vertigo",
          "familial benign recurrent vertigo",
          "familial vestibulopathy",
          "vertigo, benign paroxysmal positional",
          "vertigo, benign recurrent",
          "vestibulopathy, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:8000018"
    },
    {
      "id": 29400,
      "label": "vertigo, benign recurrent, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6654,
        18718,
        22991,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027039",
          "MEDGEN:412807",
          "MESH:C567620",
          "UMLS:C2749845"
        ],
        "synonyms": [
          "BRV1",
          "vertigo, benign recurrent, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:8000019"
    }
  ],
  "roots": [
    {
      "id": 18957,
      "label": "neuromuscular disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}