{
  "id": 23890,
  "label": "X-linked complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100148",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    },
    {
      "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": 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": 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"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}