{
  "id": 18257,
  "label": "infantile spasms",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018097",
  "properties": {
    "xrefs": [
      "DOID:0050562",
      "GARD:0007887",
      "ICD9:345.60",
      "ICD9:348.89",
      "MEDGEN:11519",
      "MedDRA:10021750",
      "NANDO:1200592",
      "NANDO:2200878",
      "NCIT:C84788",
      "NORD:1848",
      "Orphanet:3451",
      "Orphanet:697160",
      "SCTID:28055006",
      "UMLS:C0037769",
      "icd11.foundation:1023597213"
    ],
    "synonyms": [
      "IESS",
      "West syndrome",
      "West's syndrome",
      "infantile epileptic spasms syndrome",
      "infantile spasms",
      "infantile spasms syndrome",
      "intellectual disability-hypsarrhythmia syndrome",
      "X-linked infantile spasm syndrome",
      "X-linked infantile spasms",
      "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 25074,
      "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027298"
        ],
        "synonyms": [
          "NIE-SDE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800490"
    }
  ],
  "children": [
    {
      "id": 11557,
      "label": "developmental and epileptic encephalopathy, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16437,
        17975,
        18257,
        23792,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080467",
          "GARD:0018617",
          "MEDGEN:1663579",
          "MESH:C564064",
          "OMIM:300672",
          "Orphanet:505652",
          "UMLS:C4750718"
        ],
        "synonyms": [
          "CDKL5 early infantile epileptic encephalopathy",
          "DEE2",
          "EIEE2",
          "developmental and epileptic encephalopathy 2, X-linked dominant",
          "developmental and epileptic encephalopathy, 2",
          "early infantile epileptic encephalopathy caused by mutation in CDKL5",
          "epileptic encephalopathy, early infantile, 2",
          "epileptic encephalopathy, early infantile, type 2",
          "infantile spasm syndrome, X-linked 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 CDKL5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010396"
    },
    {
      "id": 11778,
      "label": "developmental and epileptic encephalopathy, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080468",
          "GARD:0015298",
          "MEDGEN:483052",
          "OMIM:308350",
          "UMLS:C3463992"
        ],
        "synonyms": [
          "ARX early infantile epileptic encephalopathy",
          "DEE1",
          "EIEE1",
          "developmental and epileptic encephalopathy 1, X-linked recessive",
          "early infantile epileptic encephalopathy caused by mutation in ARX",
          "early infantile epileptic encephalopathy caused by mutation in arx",
          "epileptic encephalopathy, early infantile, 1",
          "epileptic encephalopathy, early infantile, type 1",
          "Ohtahara syndrome, X-linked",
          "West syndrome, X-linked",
          "XMESID",
          "infantile epileptic-dyskinetic encephalopathy",
          "infantile spasm syndrome, X-linked 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 ARX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010632"
    },
    {
      "id": 14312,
      "label": "developmental and epileptic encephalopathy, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080438",
          "GARD:0012949",
          "MEDGEN:462081",
          "OMIM:613477",
          "UMLS:C3150731"
        ],
        "synonyms": [
          "DEE5",
          "EIEE5",
          "SPTAN1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 5",
          "early infantile epileptic encephalopathy caused by mutation in SPTAN1",
          "epileptic encephalopathy, early infantile, 5",
          "epileptic encephalopathy, early infantile, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 SPTAN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013277"
    },
    {
      "id": 14422,
      "label": "developmental and epileptic encephalopathy, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17694,
        18257,
        24182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080459",
          "GARD:0013318",
          "MEDGEN:462338",
          "OMIM:613722",
          "UMLS:C3150988"
        ],
        "synonyms": [
          "DEE12",
          "EIEE12",
          "PLCB1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 12",
          "developmental and epileptic encephalopathy, 12",
          "early infantile epileptic encephalopathy 12",
          "early infantile epileptic encephalopathy caused by mutation in PLCB1",
          "epileptic encephalopathy, early infantile, 12",
          "epileptic encephalopathy, early infantile, type 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013389"
    },
    {
      "id": 15013,
      "label": "developmental and epileptic encephalopathy, 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18257,
        23814,
        26279
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080414",
          "GARD:0015892",
          "MEDGEN:767230",
          "OMIM:615006",
          "UMLS:C3554316"
        ],
        "synonyms": [
          "DEE15",
          "EIEE15",
          "developmental and epileptic encephalopathy 15",
          "epileptic encephalopathy, early infantile, 15",
          "epileptic encephalopathy, early infantile, type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014003"
    },
    {
      "id": 15504,
      "label": "developmental and epileptic encephalopathy, 27",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814,
        24724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080444",
          "GARD:0016063",
          "MEDGEN:863753",
          "OMIM:616139",
          "UMLS:C4015316"
        ],
        "synonyms": [
          "DEE27",
          "EIEE27",
          "GRIN2B early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 27",
          "early infantile epileptic encephalopathy caused by mutation in GRIN2B",
          "epileptic encephalopathy, early infantile, 27",
          "epileptic encephalopathy, early infantile, type 27"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 GRIN2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014505"
    },
    {
      "id": 15593,
      "label": "developmental and epileptic encephalopathy, 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814,
        25075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080465",
          "GARD:0016093",
          "MEDGEN:898954",
          "OMIM:616341",
          "UMLS:C4225360"
        ],
        "synonyms": [
          "DEE30",
          "EIEE30",
          "SIK1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 30",
          "early infantile epileptic encephalopathy caused by mutation in SIK1",
          "epileptic encephalopathy, early infantile, 30",
          "epileptic encephalopathy, early infantile, type 30"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 SIK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014595"
    },
    {
      "id": 15876,
      "label": "developmental and epileptic encephalopathy, 40",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18257,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080427",
          "GARD:0016182",
          "MEDGEN:934704",
          "OMIM:617065",
          "UMLS:C4310737"
        ],
        "synonyms": [
          "DEE40",
          "EIEE40",
          "GUF1 early infantile epileptic encephalopathy",
          "developmental and epileptic encephalopathy 40",
          "early infantile epileptic encephalopathy caused by mutation in GUF1",
          "epileptic encephalopathy, early infantile, 40",
          "epileptic encephalopathy, early infantile, 40; EIEE40",
          "epileptic encephalopathy, early infantile, type 40"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "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 GUF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014895"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 25074,
      "label": "neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy"
    }
  ]
}