{
  "id": 11630,
  "label": "developmental and epileptic encephalopathy, 36",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010472",
  "properties": {
    "xrefs": [
      "DOID:0080470",
      "GARD:0012401",
      "MEDGEN:1382656",
      "OMIM:300884",
      "Orphanet:324422",
      "SCTID:733451007",
      "UMLS:C4317295"
    ],
    "synonyms": [
      "ALG13-CDG",
      "CDG syndrome type Is",
      "CDG-Is",
      "CDG1S",
      "DEE36",
      "EIEE36",
      "congenital disorder of glycosylation type 1s",
      "congenital disorder of glycosylation type Is",
      "developmental and epileptic encephalopathy 36",
      "epileptic encephalopathy, early infantile, 36",
      "CDG Is",
      "congenital disorder of glycosylation, type Is"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050570",
          "EFO:0005545",
          "GARD:0024196",
          "MEDGEN:1684618",
          "OMIMPS:212065",
          "UMLS:C4700504"
        ],
        "synonyms": [
          "congenital disorders of glycosylation, type I",
          "ALG1-CDG",
          "ALG1-CDG (CDG-1k)",
          "ALG11-CDG",
          "ALG11-CDG (CDG-1p)",
          "ALG12-CDG",
          "ALG12-CDG (CDG-1g)",
          "ALG2-CDG",
          "ALG2-CDG (CDG-1i)",
          "ALG3-CDG",
          "ALG3-CDG (CDG-1d)",
          "ALG6-CDG",
          "ALG6-CDG (CDG-1c)",
          "ALG8-CDG",
          "ALG8-CDG (CDG-1h)",
          "ALG9-CDG",
          "ALG9-CDG (CDG-1l)",
          "DOLK-CDG",
          "DOLK-CDG (CDG-1m)",
          "DPAGT1-CDG",
          "DPAGT1-CDG (CDG-1j)",
          "DPM1-CDG",
          "DPM1-CDG (CDG-1e)",
          "DPM2-CDG",
          "DPM2-CDG (CDG-1u)",
          "DPM3-CDG",
          "DPM3-CDG (CDG-1o)",
          "MPDU1-CDG",
          "MPDU1-CDG (CDG-1f)",
          "MPI-CDG",
          "MPI-CDG (CDG-1b)",
          "PMM2-CDG",
          "PMM2-CDG (CDG-1a)",
          "RFT1-CDG",
          "RFT1-CDG (CDG-1n)",
          "SRD5A3-CDG",
          "SRD5A3-CDG (CDG-1q)"
        ],
        "definition": "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor."
      },
      "child_count": 28,
      "reference_id": "MONDO:0005500"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        23506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021335",
          "MEDGEN:1826111",
          "Orphanet:309347",
          "UMLS:C5681044",
          "icd11.foundation:292641586"
        ],
        "synonyms": [
          "disorder of protein N-linked glycosylation",
          "protein N-linked glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of protein N-linked glycosylation."
      },
      "child_count": 52,
      "reference_id": "MONDO:0017740"
    },
    {
      "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": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I"
    },
    {
      "id": 17973,
      "label": "disorder of protein N-glycosylation"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}