{
  "id": 11558,
  "label": "severe neonatal-onset encephalopathy with microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010397",
  "properties": {
    "xrefs": [
      "DOID:0111932",
      "GARD:0017103",
      "MEDGEN:409616",
      "MESH:C566878",
      "NCIT:C132293",
      "OMIM:300673",
      "Orphanet:209370",
      "UMLS:C1968556",
      "icd11.foundation:240602582"
    ],
    "synonyms": [
      "encephalopathy, neonatal severe, X-linked recessive",
      "severe congenital encephalopathy due to MECP2 mutation",
      "severe neonatal encephalopathy due to MECP2 mutations",
      "encephalopathy, neonatal severe, due to MECP2 mutations"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19723,
      "label": "neonatal epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019435",
          "Orphanet:98257"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome that has an onset during the neonatal stage of life."
      },
      "child_count": 6,
      "reference_id": "MONDO:0020070"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "An instance of encephalopathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 19,
      "reference_id": "MONDO:0100198"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 19723,
      "label": "neonatal epilepsy syndrome"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}