{
  "id": 11422,
  "label": "developmental and epileptic encephalopathy, 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010246",
  "properties": {
    "xrefs": [
      "DOID:0060848",
      "GARD:0010806",
      "MEDGEN:338393",
      "MESH:C564715",
      "NANDO:1200599",
      "OMIM:300088",
      "Orphanet:101039",
      "UMLS:C1848137"
    ],
    "synonyms": [
      "DEE9",
      "EFMR",
      "EIEE9",
      "Juberg-Hellman syndrome",
      "PCDH19 early infantile epileptic encephalopathy",
      "developmental and epileptic encephalopathy 9",
      "developmental and epileptic encephalopathy, 9",
      "early infantile epileptic encephalopathy caused by mutation in PCDH19",
      "early infantile epileptic encephalopathy type 9",
      "epileptic encephalopathy, early infantile, 9",
      "epileptic encephalopathy, early infantile, type 9",
      "familial epilepsy and intellectual disability limited to females",
      "familial epilepsy and mental retardation limited to females",
      "female restricted epilepsy with intellectual disability",
      "PCDH19-related FLE",
      "PCDH19-related female-limited epilepsy",
      "PCDH19-related infantile epileptic encephalopathy",
      "epilepsy and intellectual disability limited to females",
      "epilepsy and mental retardation limited to females",
      "epilepsy, female restricted, with intellectual disability",
      "epilepsy, female restricted, with mental retardation",
      "epilepsy, female-restricted, with intellectual disability",
      "epilepsy, female-restricted, with mental retardation",
      "female restricted epilepsy with intellectual deficit"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16759,
      "label": "X-linked intellectual disability-epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16437,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016584",
          "MEDGEN:1842841",
          "Orphanet:2076",
          "UMLS:C5680771"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016160"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    },
    {
      "id": 23890,
      "label": "X-linked complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027063"
        ],
        "synonyms": [
          "X-linked complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100148"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16759,
      "label": "X-linked intellectual disability-epilepsy syndrome"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    },
    {
      "id": 23890,
      "label": "X-linked complex neurodevelopmental disorder"
    }
  ]
}