{
  "id": 16808,
  "label": "hereditary episodic ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016227",
  "properties": {
    "xrefs": [
      "DOID:963",
      "GARD:0020457",
      "MEDGEN:314033",
      "OMIMPS:160120",
      "Orphanet:211062",
      "SCTID:421455009",
      "UMLS:C1720189",
      "icd11.foundation:423095680"
    ],
    "synonyms": [
      "episodic ataxia",
      "Isaacs syndrome",
      "ea syndrome",
      "episodic ataxia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [
    {
      "id": 8570,
      "label": "episodic ataxia type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808,
        23992
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050990",
          "GARD:0009602",
          "MEDGEN:314039",
          "MESH:C535506",
          "OMIM:108500",
          "Orphanet:97",
          "SCTID:420932006",
          "UMLS:C1720416"
        ],
        "synonyms": [
          "CACNA1A hereditary episodic ataxia",
          "episodic ataxia type 2",
          "hereditary episodic ataxia caused by mutation in CACNA1A",
          "APCA",
          "Acetazolamide-responsive episodic ataxia syndrome",
          "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia",
          "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia",
          "CAPA",
          "Cerebellopathy, hereditary paroxysmal",
          "EA2",
          "Nystagmus-associated episodic ataxia",
          "ataxia, episodic, with Nystagmus",
          "ataxia, familial paroxysmal",
          "ataxia, familial, paroxysmal",
          "cerebellar ataxia, paroxysmal, Acetazolamide-responsive",
          "episodic ataxia with nystagmus",
          "episodic ataxia, Nystagmus-associated",
          "episodic ataxia, type 2",
          "familial paroxysmal ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007163"
    },
    {
      "id": 9370,
      "label": "episodic ataxia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050989",
          "GARD:0016641",
          "MEDGEN:318554",
          "OMIM:160120",
          "Orphanet:37612",
          "SCTID:421182009",
          "UMLS:C1719788"
        ],
        "synonyms": [
          "EA1",
          "Isaacs-Mertens syndrome",
          "KCNA1 hereditary episodic ataxia",
          "acetazolamide-responsive periodic ataxia",
          "ataxia, episodic, with myokymia",
          "continuous muscle fiber activity",
          "episodic ataxia with myokymia",
          "episodic ataxia, type 1",
          "episodic ataxia/myokymia syndrome",
          "familial paroxysmal kinesigenic ataxia and continuous myokymia",
          "hereditary episodic ataxia caused by mutation in KCNA1",
          "hereditary paroxysmal ataxia with neuromyotonia",
          "myokymia with episodic ataxia",
          "myokymia with periodic ataxia",
          "paroxysmal ataxia with neuromyotonia, hereditary",
          "myokymia 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008047"
    },
    {
      "id": 12771,
      "label": "episodic ataxia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050992",
          "GARD:0016703",
          "MEDGEN:376222",
          "MESH:C564698",
          "OMIM:606552",
          "Orphanet:79136",
          "SCTID:718754008",
          "UMLS:C1847843",
          "icd11.foundation:1119711189"
        ],
        "synonyms": [
          "PATX",
          "periodic vestibulocerebellar ataxia",
          "EA4",
          "ataxia, periodic vestibulocerebellar",
          "episodic ataxia, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011681"
    },
    {
      "id": 12772,
      "label": "episodic ataxia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050991",
          "GARD:0016702",
          "MEDGEN:376220",
          "MESH:C564697",
          "OMIM:606554",
          "Orphanet:79135",
          "SCTID:718755009",
          "UMLS:C1847839"
        ],
        "synonyms": [
          "episodic ataxia-vertigo-tinnitus-myokymia syndrome",
          "EA3",
          "ataxia, episodic, with vertigo and tinnitus",
          "episodic ataxia, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011682"
    },
    {
      "id": 13795,
      "label": "episodic ataxia type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050995",
          "GARD:0017108",
          "MEDGEN:383209",
          "MESH:C567459",
          "OMIM:611907",
          "Orphanet:209970",
          "SCTID:718752007",
          "UMLS:C2677843",
          "icd11.foundation:1855038011"
        ],
        "synonyms": [
          "EA7",
          "episodic ataxia, type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012755"
    },
    {
      "id": 14022,
      "label": "episodic ataxia type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808,
        19084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050994",
          "GARD:0017107",
          "MEDGEN:390739",
          "MESH:C567207",
          "OMIM:612656",
          "Orphanet:209967",
          "SCTID:718753002",
          "UMLS:C2675211",
          "icd11.foundation:1493336901"
        ],
        "synonyms": [
          "SLC1A3 hereditary episodic ataxia",
          "episodic ataxia type 6",
          "hereditary episodic ataxia caused by mutation in SLC1A3",
          "EA6",
          "episodic ataxia, type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012982"
    },
    {
      "id": 14495,
      "label": "episodic ataxia type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050993",
          "GARD:0017113",
          "MEDGEN:356142",
          "MESH:C566601",
          "OMIM:613855",
          "Orphanet:211067",
          "SCTID:718756005",
          "UMLS:C1866039"
        ],
        "synonyms": [
          "CACNB4 hereditary episodic ataxia",
          "hereditary episodic ataxia caused by mutation in CACNB4",
          "EA5",
          "episodic ataxia, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013464"
    },
    {
      "id": 15475,
      "label": "episodic ataxia type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050996",
          "GARD:0017665",
          "MEDGEN:863545",
          "OMIM:616055",
          "Orphanet:401953",
          "UMLS:C4015108"
        ],
        "synonyms": [
          "episodic ataxia type 8",
          "EA8",
          "episodic ataxia with slurred speech",
          "episodic ataxia, type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014476"
    },
    {
      "id": 21840,
      "label": "episodic ataxia, type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16808
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060965",
          "GARD:0025520",
          "MEDGEN:1714171",
          "OMIM:618924",
          "UMLS:C5394520"
        ],
        "synonyms": [
          "EA9",
          "EPISODIC ATAXIA, TYPE 9",
          "episodic ataxia, type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030064"
    }
  ],
  "roots": [
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}