{
  "id": 24400,
  "label": "ATP1A3-associated neurological disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700002",
  "properties": {
    "synonyms": [
      "ATP1A3 neurological disorder",
      "ATP1A3 related neurological disorder",
      "neurological disorder caused by mutation in ATP1A3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 8881,
      "label": "dystonia 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19719,
        20335,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090056",
          "GARD:0009628",
          "MEDGEN:358384",
          "MESH:C538001",
          "NANDO:1200523",
          "NANDO:1200524",
          "NCIT:C157577",
          "OMIM:128235",
          "Orphanet:71517",
          "SCTID:702323008",
          "UMLS:C1868681"
        ],
        "synonyms": [
          "ATP1A3 dystonic disorder",
          "DYT-ATP1A3",
          "DYT12",
          "dystonia 12",
          "dystonia type 12",
          "dystonia-12",
          "dystonic disorder caused by mutation in ATP1A3",
          "RDP",
          "dystonia-Parkinsonism, rapid-onset",
          "rapid-onset dystonia-parkinsonism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007496"
    },
    {
      "id": 12164,
      "label": "cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15713,
        19535,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001188",
          "MEDGEN:318633",
          "MESH:C535351",
          "NANDO:1200526",
          "OMIM:601338",
          "Orphanet:1171",
          "SCTID:720634003",
          "UMLS:C1832466"
        ],
        "synonyms": [
          "CAPOS syndrome",
          "CAPOS",
          "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss",
          "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011038"
    },
    {
      "id": 14912,
      "label": "alternating hemiplegia of childhood 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16815,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015845",
          "MEDGEN:766702",
          "OMIM:614820",
          "UMLS:C3553788"
        ],
        "synonyms": [
          "ATP1A3 alternating hemiplegia of childhood",
          "alternating hemiplegia of childhood 2",
          "alternating hemiplegia of childhood caused by mutation in ATP1A3",
          "alternating hemiplegia of childhood type 2",
          "AHC2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013900"
    },
    {
      "id": 21934,
      "label": "developmental and epileptic encephalopathy 99",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23814,
        24400
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070385",
          "GARD:0025572",
          "MEDGEN:1794228",
          "OMIM:619606",
          "UMLS:C5562018"
        ],
        "synonyms": [
          "DEE99"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030473"
    }
  ],
  "roots": [
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}