{
  "id": 22645,
  "label": "developmental and epileptic encephalopathy, 55",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033364",
  "properties": {
    "xrefs": [
      "DOID:0080283",
      "GARD:0016241",
      "MEDGEN:1622363",
      "OMIM:617599",
      "UMLS:C4539843"
    ],
    "synonyms": [
      "DEE55",
      "EIEE55",
      "developmental and epileptic encephalopathy 55",
      "epileptic encephalopathy, early infantile, 55",
      "glycosylphosphatidylinositol biosynthesis defect 14",
      "infantile epileptic encephalopathy 55"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    },
    {
      "id": 21353,
      "label": "disorder of GPI anchor biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        21354
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "GPI anchor biosynthetic process disease",
          "GPIBD",
          "disorder of GPI anchor biosynthetic process",
          "glycosylphosphatidylinositol biosynthesis defect"
        ],
        "definition": "A disease that has its basis in the disruption of GPI anchor biosynthetic process."
      },
      "child_count": 22,
      "reference_id": "MONDO:0024321"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder"
    },
    {
      "id": 21353,
      "label": "disorder of GPI anchor biosynthesis"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}