{
  "id": 16815,
  "label": "alternating hemiplegia of childhood",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016241",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3414,
      "label": "hemiplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10969",
          "EFO:0009453",
          "ICD10WHO:G81",
          "ICD9:343.4",
          "MEDGEN:9196",
          "MESH:D006429",
          "SCTID:1593000",
          "UMLS:C0018991",
          "icd11.foundation:1641958762"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body."
      },
      "child_count": 1,
      "reference_id": "MONDO:0001170"
    },
    {
      "id": 16794,
      "label": "alternating hemiplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020446",
          "MEDGEN:124456",
          "Orphanet:209978",
          "SCTID:404689008",
          "UMLS:C0278110",
          "icd11.foundation:774373615"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016210"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8500,
      "label": "alternating hemiplegia of childhood 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16815
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015036",
          "MEDGEN:762361",
          "OMIM:104290",
          "UMLS:C3549447"
        ],
        "synonyms": [
          "ATP1A2 alternating hemiplegia of childhood",
          "alternating hemiplegia of childhood 1",
          "alternating hemiplegia of childhood caused by mutation in ATP1A2",
          "alternating hemiplegia of childhood type 1",
          "AHC1"
        ],
        "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 ATP1A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007087"
    },
    {
      "id": 11438,
      "label": "X-linked adrenal hypoplasia congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4427,
        16074,
        16526,
        16815
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080156",
          "GARD:0000555",
          "MEDGEN:87442",
          "NANDO:1200403",
          "NANDO:2200357",
          "NCIT:C123725",
          "OMIM:300200",
          "Orphanet:95702",
          "SCTID:93235007",
          "UMLS:C0342482"
        ],
        "synonyms": [
          "AHC",
          "adrenal hypoplasia congenita",
          "X-linked adrenal hypoplasia congenita",
          "X-linked congenital adrenal hypoplasia",
          "adrenal hypoplasia, congenital, X-linked recessive",
          "AHC with HHG",
          "AHC with isolated gonadotropin deficiency",
          "Addison disease, X-linked",
          "X-linked AHC",
          "adrenal hypoplasia, congenital",
          "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism",
          "adrenal hypoplasia, congenital, with precocious puberty",
          "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism",
          "cytomegalic adrenocortical hypoplasia",
          "cytomegalic congenital adrenal hypoplasia",
          "mineralocorticoid deficiency, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism."
      },
      "child_count": 5,
      "reference_id": "MONDO:0010264"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 3414,
      "label": "hemiplegia"
    },
    {
      "id": 16794,
      "label": "alternating hemiplegia"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}