{
  "id": 14912,
  "label": "alternating hemiplegia of childhood 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013900",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16815,
      "label": "alternating hemiplegia of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3414,
        16794,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050635",
          "GARD:0000011",
          "MEDGEN:90925",
          "MESH:C536589",
          "NANDO:1200403",
          "NANDO:1200525",
          "NANDO:2100239",
          "NANDO:2200357",
          "NANDO:2200883",
          "NCIT:C35261",
          "NORD:758",
          "OMIMPS:104290",
          "Orphanet:2131",
          "SCTID:230466004",
          "UMLS:C0338488",
          "icd11.foundation:301329822"
        ],
        "synonyms": [
          "AHC",
          "adrenal hypoplasia congenita",
          "alternating hemiplegia of childhood",
          "childhood alternating hemiplegia",
          "congenital adrenal Hypoplasia",
          "congenital adrenal gland hypoplasia",
          "paediatric alternating hemiplegia",
          "pediatric alternating hemiplegia",
          "alternating hemiplegia",
          "alternating hemiplegia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016241"
    },
    {
      "id": 24400,
      "label": "ATP1A3-associated neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700002"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16815,
      "label": "alternating hemiplegia of childhood"
    },
    {
      "id": 24400,
      "label": "ATP1A3-associated neurological disorder"
    }
  ]
}