{
  "id": 16759,
  "label": "X-linked intellectual disability-epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016160",
  "properties": {
    "xrefs": [
      "GARD:0016584",
      "MEDGEN:1842841",
      "Orphanet:2076",
      "UMLS:C5680771"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 11422,
      "label": "developmental and epileptic encephalopathy, 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759,
        23814,
        23890
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010246"
    },
    {
      "id": 11489,
      "label": "syndromic X-linked intellectual disability Hedera type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759,
        23888
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060806",
          "GARD:0016834",
          "MEDGEN:337257",
          "MESH:C564516",
          "OMIM:300423",
          "Orphanet:93952",
          "UMLS:C1845543"
        ],
        "synonyms": [
          "MRXE",
          "MRXSH",
          "X-linked intellectual disability with epilepsy",
          "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive",
          "intellectual disability, X-linked, syndromic, Hedera type",
          "mental retardation, X-linked, syndromic, Hedera type",
          "X-linked intellectual disability, Hedera type",
          "intellectual disability, X-linked, with epilepsy",
          "mental retardation, X-linked, with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010319"
    },
    {
      "id": 11539,
      "label": "developmental and epileptic encephalopathy, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759,
        20273,
        23814,
        23890
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080215",
          "GARD:0017010",
          "MEDGEN:375581",
          "MESH:C564474",
          "OMIM:300607",
          "Orphanet:163985",
          "UMLS:C1845102"
        ],
        "synonyms": [
          "DEE8",
          "EIEE8",
          "developmental and epileptic encephalopathy 8",
          "epileptic encephalopathy, early infantile, 8",
          "epileptic encephalopathy, early infantile, type 8",
          "hyperekplexia-epilepsy syndrome",
          "hyperekplexia and epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010375"
    },
    {
      "id": 19520,
      "label": "X-linked dominant intellectual disability-epilepsy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:93951"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019770"
    }
  ],
  "roots": [
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}