{
  "id": 23992,
  "label": "CACNA1A-related complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100254",
  "properties": {
    "xrefs": [
      "GARD:0027064"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 24241,
      "label": "complex neurodevelopmental disorder with motor features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027067"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100516"
    }
  ],
  "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": 9749,
      "label": "spinocerebellar ataxia type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19536,
        23992
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050956",
          "GARD:0010351",
          "MEDGEN:148458",
          "NANDO:1200042",
          "NCIT:C142838",
          "OMIM:183086",
          "Orphanet:98758",
          "SCTID:715752006",
          "UMLS:C0752124",
          "icd11.foundation:1056119281"
        ],
        "synonyms": [
          "CACNA1A autosomal dominant cerebellar ataxia type III",
          "SCA6",
          "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A",
          "spinocerebellar ataxia type 6",
          "spinocerebellar ataxia 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008457"
    },
    {
      "id": 15896,
      "label": "developmental and epileptic encephalopathy, 42",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18615,
        23992,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080454",
          "GARD:0016191",
          "MEDGEN:934683",
          "OMIM:617106",
          "UMLS:C4310716"
        ],
        "synonyms": [
          "CACNA1A early infantile epileptic encephalopathy",
          "DEE42",
          "EIEE42",
          "developmental and epileptic encephalopathy 42",
          "early infantile epileptic encephalopathy caused by mutation in CACNA1A",
          "epileptic encephalopathy, early infantile, 42",
          "epileptic encephalopathy, early infantile, 42; EIEE42",
          "epileptic encephalopathy, early infantile, type 42"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014917"
    },
    {
      "id": 20158,
      "label": "migraine, familial hemiplegic, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3089,
        23992
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111181",
          "GARD:0002638",
          "MEDGEN:331388",
          "MESH:C536890",
          "OMIM:141500",
          "UMLS:C1832884",
          "icd11.foundation:1583236457"
        ],
        "synonyms": [
          "FHM1",
          "MHP1",
          "familial hemiplegic migraine type 1",
          "hemiplegic migraine, familial type 1",
          "migraine, familial hemiplegic 1, with progressive cerebellar ataxia",
          "migraine, familial hemiplegic, 1",
          "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia",
          "migraine, familial hemiplegic, type 1",
          "migraine, sporadic hemiplegic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020756"
    }
  ],
  "roots": [
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    },
    {
      "id": 24241,
      "label": "complex neurodevelopmental disorder with motor features"
    }
  ]
}